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
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(32): Show TATATATATATATATACACACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	81	0.0123	39	c.-99 others(56): Show c.-99+9537_-99+9538insATATATATATATATACACACACACACAC ATACACATATA		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22						chr20	TogoVar
NCOA3_chr20_47496887_47661872	47511556	T T	TATATATA others(32): Show TATATATATATATATATATACACACACACATACACATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02258.hp2 NA18951.hp2 HG00673.hp2 HG02258.hp2 NA18951.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0007 a0001c0001 a0003c0004 a0005c0007	a0001c0001t0001 a0003c0004t0020 a0005c0007t0007 a0001c0001t0001 a0003c0004t0020 a0005c0007t0007	a0001c0001t0001g0265 a0003c0004t0020g0290 a0005c0007t0007g0297 a0001c0001t0001g0265 a0003c0004t0020g0290 a0005c0007t0007g0297	3	83	0.0361	39	c.-99 others(56): Show c.-99+9537_-99+9538insATATATATATATATATATACACACACAC ATACACATATA		NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22						chr20	TogoVar
NCOA6_chr20_34709774_34830651	34751376	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	63	0.0159	39	c.167 others(56): Show c.1676-858_1676-857insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	8/14						chr20	TogoVar
NCOR1_chr17_16024157_16220534	16077508	G G	GGGGGGAG others(32): Show GGGGGGAGGAGGGGGAGGGGGGAGGAGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18985.hp1 HG02976.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0270 a0001c0003t0003g0274 a0001c0001t0004g0270 a0001c0003t0003g0274	2	279	0.0072	39	c.350 others(58): Show c.3502-1807_3502-1806insTCCCCCCCTCCCCCTCCTCCCCCCTC CCCCTCCTCCCCC		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	26/45						chr17	TogoVar
NCOR1_chr17_16024157_16220534	16077510	G G	GGGAGGAG others(32): Show GGGAGGAGGGGGAGGGGGGAGGAGGGGGAGGGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0256 a0001c0009t0010g0256	1	257	0.0039	39	c.350 others(58): Show c.3502-1809_3502-1808insTCCTCCCCCCCTCCCCCTCCTCCCCC CTCCCCCTCCTCC		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	26/45						chr17	TogoVar
NCOR1_chr17_16024157_16220534	16077527	A A	AGAGGGGA others(32): Show AGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	280	0.0036	39	c.350 others(58): Show c.3502-1826_3502-1825insCCTCCCCTCTCCTCCCCTCTCCTCCC CTCTCCTCCCCTC		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	26/45						chr17	TogoVar
NCOR2_chr12_124319415_124572612	124373665	A A	AGGCCAGT others(32): Show AGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGGCAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(9): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG01261.hp2 HG01496.hp2 HG02027.hp1 HG02083.hp1 HG03579.hp2 NA18943.hp2 NA19091.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0010 a0011 a0021	a0001c0009 a0001c0029 a0001c0093 others(7): Show a0001c0009 a0001c0029 a0001c0093 a0002c0006 a0002c0114 a0004c0094 a0005c0019 a0010c0061 a0011c0156 a0021c0151	a0001c0009t0008 a0001c0029t0002 a0001c0029t0018 others(9): Show a0001c0009t0008 a0001c0029t0002 a0001c0029t0018 a0001c0093t0010 a0002c0006t0008 a0002c0006t0076 a0002c0114t0018 a0004c0094t0063 a0005c0019t0008 a0010c0061t0019 a0011c0156t0007 a0021c0151t0053	a0001c0009t0008g0025 a0001c0029t0002g0040 a0001c0029t0018g0154 others(9): Show a0001c0009t0008g0025 a0001c0029t0002g0040 a0001c0029t0018g0154 a0001c0093t0010g0214 a0002c0006t0008g0008 a0002c0006t0076g0179 a0002c0114t0018g0141 a0004c0094t0063g0193 a0005c0019t0008g0038 a0010c0061t0019g0033 a0011c0156t0007g0190 a0021c0151t0053g0056	12	154	0.0779	39	c.221 others(56): Show c.2218+747_2218+748insCTGCCCACTGTGCCCGGGGCCCCTGCGC ACGCACTGGCC		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48						chr12	TogoVar
NCOR2_chr12_124319415_124572612	124468836	A A	ACATCATC others(32): Show ACATCATCCTCATCACCCCCATCATCCTCATCCTCATCAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0047 a0002c0033t0047	a0002c0033t0047g0054 a0002c0033t0047g0054	1	232	0.0043	39	c.592 others(56): Show c.592-2551_592-2550insGTGATGAGGATGAGGATGATGGGGGTGA TGAGGATGATG		NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	6/48						chr12	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	157	0.0064	39	c.594 others(54): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17						chr1	TogoVar
NDC1_chr1_53760478_53843296	53832582	C C	CCTTTTGT others(32): Show CCTTTTGTGCTTTTTTTTTTTTTTGTCTATTTTGGTTTGT	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0128 a0005c0004t0001g0128	1	194	0.0052	39	c.187 others(46): Show c.187_188insACAAACCAAAATAGACAAAAAAAAAAAAAAGCACAAAA G	p.Ser others(50): Show p.Ser63delinsAsnLysProLysTerThrLysLysLysLysSerThrL ysGly	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	3/18	222/4552	187/2025	63/674			chr1	TogoVar
NDC80_chr18_2566557_2621635	2614574	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	399	0.0025	39	c.179 others(58): Show c.1792-1860_1792-1822dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA		NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
NDC80_chr18_2566557_2621635	2614598	A A	AAAGAAAG others(32): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	400	0.0025	39	c.179 others(58): Show c.1792-1836_1792-1798dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA		NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
NDE1_chr16_15645245_15731353	15712882	G G	GTTTTTTT others(32): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0331 a0001c0001t0002g0332	2	124	0.0161	39	c.948 others(58): Show c.948-11296_948-11295insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		NDE1	ENSG00000072864.16	transcript	ENST00000396354.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
NDEL1_chr17_8430884_8473163	8432347	A A	ATATATAT others(32): Show ATATATATATATTATATATAAATATATATATATATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	210	0.0048	39	c.-37 others(50): Show c.-3711_-3710insTATATATATATTATATATAAATATATATATATAT ATTAT		NDEL1	ENSG00000166579.16	transcript	ENST00000334527.12	protein_coding					3536		chr17	TogoVar
NDUFA3_chr19_54097855_54112568	54109162	T T	TGGGAGGG others(32): Show TGGGAGGGGGGGTGGGACGGGGGGAGGGGCGGGGGGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	425	0.0024	39	c.22 others(50): Show c.2260_*2261insGGGAGGGGGGGTGGGACGGGGGGAGGGGCGGGGG GATGG		NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding					1595		chr19	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03688.hp2 HG02074.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0203 a0001c0001t0001g0144 a0001c0001t0001g0203	2	24	0.0833	39	c.379 others(56): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4						chr16	TogoVar
NECTIN4_chr1_161065998_161094558	161093580	T T	TGGAGTGT others(32): Show TGGAGTGTGCCATCCAGGGGAGGAGGCAGCTAAATGCAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	406	0.0025	39	c.-42 others(50): Show c.-4285_-4284insCTTGCATTTAGCTGCCTCCTCCCCTGGATGGCAC ACTCC		NECTIN4	ENSG00000143217.9	transcript	ENST00000368012.4	protein_coding					4023		chr1	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18974.hp2 HG02148.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0152 a0001c0001t0004g0062 a0001c0001t0004g0152	2	27	0.0741	39	c.490 others(56): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATATAT ATATATATATA		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(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG03453.hp1 others(1): Show HG00423.hp1 HG01081.hp1 HG03453.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0010	a0001c0001t0001g0218 a0001c0001t0001g0245 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0002t0010g0280	4	29	0.1379	39	c.490 others(56): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATATATAT ATATATATATA		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(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02602.hp1 NA19070.hp1 HG01255.hp2 HG02602.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0269 a0001c0001t0003g0187 a0001c0001t0004g0071 a0001c0001t0001g0269 a0001c0001t0003g0187 a0001c0001t0004g0071	3	28	0.1071	39	c.490 others(56): Show c.490-2512_490-2511insAAAAAAAAATATATATATATATATATAT ATATATATATA		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(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	26	0.0385	39	c.490 others(56): Show c.490-2512_490-2511insAAAAAAATATATATATATATATATATAT ATATATATATA		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	26	0.0385	39	c.490 others(56): Show c.490-2512_490-2511insAAAAATATATATATATATATATATATAT ATATATATATA		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NEDD4L_chr18_58039226_58406539	58082102	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	16	0.0625	39	c.48+ others(56): Show c.48+37395_48+37396insATATATATATATATATATATATATTTTT TTTTTTTTTTT		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr18	TogoVar
NEK11_chr3_131021877_131355465	131317821	A A	AGGGAGGG others(32): Show AGGGAGGGGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02698.hp1 HG03098.hp2 others(1): Show HG01175.hp1 HG02698.hp1 HG03098.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0001c0001t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0133 a0001c0001t0001g0255 a0002c0002t0001g0256 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0255 a0002c0002t0001g0256 a0002c0005t0001g0165	4	267	0.0150	39	c.171 others(60): Show c.1719-31733_1719-31732insAGGGGGAGGGAGGGGGAGGGGAGG GGAAGGGGAGGGGGG		NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK11_chr3_131021877_131355465	131317821	A A	AGGGAGGG others(32): Show AGGGAGGGGGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	264	0.0038	39	c.171 others(60): Show c.1719-31733_1719-31732insAGGGGGGAGGGAGGGGGAGGGGAG GGGAAGGGGAGGGGG		NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
NELL1_chr11_20664586_21580686	20915717	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	43	0.0233	39	c.604 others(56): Show c.604-2464_604-2463insATATATATATATATATATATATATATAT ATATATATATT		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20915718	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0002 a0008c0016t0002	a0008c0016t0002g0033 a0008c0016t0002g0033	1	71	0.0141	39	c.604 others(56): Show c.604-2464_604-2463insATATATATATATATATATATATATATAT ATATATATATA		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19						chr11	TogoVar
NEU4_chr2_241804193_241822413	241805198	T T	TGCAGGCC others(32): Show TGCAGGCCACCCTCCCTCCCCCCTCAACCCAGAGACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	285	0.0035	39	c.-40 others(50): Show c.-4080_-4079insGCAGGCCACCCTCCCTCCCCCCTCAACCCAGAGA CCTCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3994		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805214	T T	TCCCCCTC others(32): Show TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0026 a0001c0006t0001g0026	1	245	0.0041	39	c.-40 others(50): Show c.-4064_-4063insCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3978		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805223	A A	ACCCAGGG others(32): Show ACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	166	0.0060	39	c.-40 others(50): Show c.-4055_-4054insCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCC CTCAG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3969		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805236	C C	CGCAGGCC others(32): Show CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	226	0.0044	39	c.-40 others(50): Show c.-4042_-4041insGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3956		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805379	G G	GCCCAGGG others(32): Show GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	257	0.0039	39	c.-38 others(50): Show c.-3899_-3898insCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3813		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805675	C C	CCTCCCCT others(32): Show CCTCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	317	0.0032	39	c.-36 others(50): Show c.-3603_-3602insCTCCCCTCAGCCCAGGAACCTCTGCAGGCCACCC TCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3517		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805803	A A	AACCTCTG others(32): Show AACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAACCCAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	177	0.0056	39	c.-34 others(50): Show c.-3475_-3474insACCTCTGCAGGCCTCCCTCCCTCCCCCCTCAACC CAGAG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3389		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806262	T T	TTCCCTCC others(32): Show TTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGCCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	1	178	0.0056	39	c.-30 others(50): Show c.-3016_-3015insTCCCTCCCCCCTCAACCCAGAGACCTCCGCAGGC CACCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2930		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806349	C C	CCCTCAAC others(32): Show CCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	313	0.0032	39	c.-29 others(50): Show c.-2929_-2928insCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2843		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807086	C C	CTCCGCAG others(32): Show CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0028	1	305	0.0033	39	c.-21 others(50): Show c.-2192_-2191insTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2106		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807310	G G	GCCCAGGG others(32): Show GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	294	0.0034	39	c.-19 others(50): Show c.-1968_-1967insCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCC CTCAA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1882		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807317	G G	GACCTCTG others(32): Show GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	39	c.-19 others(50): Show c.-1961_-1960insACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACC CAGGA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1875		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807604	C C	CCCTCCCT others(32): Show CCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	316	0.0032	39	c.-16 others(50): Show c.-1674_-1673insCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCC GCAGG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1588		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807610	C C	CTCCCTCC others(32): Show CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0141 a0002c0003t0002g0141	1	315	0.0032	39	c.-16 others(50): Show c.-1668_-1667insTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1582		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807635	C C	CTCCGCAG others(32): Show CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0098 a0001c0004t0001g0098	1	304	0.0033	39	c.-16 others(50): Show c.-1643_-1642insTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGATG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1557		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807899	C C	CCCCTCAG others(32): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0116 a0001c0004t0001g0116	1	304	0.0033	39	c.-13 others(50): Show c.-1379_-1378insCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCT		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1293		chr2	TogoVar
NEU4_chr2_241804193_241822413	241808075	G G	GGCAGGCC others(32): Show GGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	296	0.0034	39	c.-12 others(50): Show c.-1203_-1202insGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCC		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					1117		chr2	TogoVar
NEXMIF_chrX_74727856_74930452	74796292	T T	TTATATAT others(32): Show TTATATATATTATATATATACATATATATTATATATATTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA19043.hp1 HG03239.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0080 a0001c0001t0010g0189 a0001c0001t0001g0080 a0001c0001t0010g0189	2	222	0.0090	39	c.-47 others(58): Show c.-47-50596_-47-50595insTAATATATATAATATATATGTATATA TATAATATATATA		NEXMIF	ENSG00000050030.16	transcript	ENST00000055682.12	protein_coding	1/3						chrX	TogoVar
NEXN_chr1_77883624_77948895	77937668	G G	GCAGCACA others(32): Show GCAGCACAACTACAACCCCACCAACCAACACAACACAAGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	266	0.0038	39	c.147 others(58): Show c.1473+1624_1473+1625insCAGCACAACTACAACCCCACCAACCA ACACAACACAAGC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding	11/12						chr1	TogoVar
NFATC1_chr18_79390930_79534323	79427846	G G	GGGTGGGG others(32): Show GGGTGGGGTGTAGGGGGAGCTGGACGGCTGGCCTCTGTGC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0004 a0001c0029t0004	a0001c0029t0004g0098 a0001c0029t0004g0098	1	285	0.0035	39	c.122 others(58): Show c.1227-5727_1227-5726insGTGTAGGGGGAGCTGGACGGCTGGCC TCTGTGCGGTGGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFE2L3_chr7_26147198_26192137	26176474	G G	GGCCGGGC others(32): Show GGCCGGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	288	0.0035	39	c.571 others(56): Show c.571-1436_571-1398dupATGGGCAGCCGGGCAGAGGCGCTCCTCA CATCCCAGACG		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26176817	A A	AGGCAGAG others(32): Show AGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCAGCCG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18962.hp2 NA18967.hp2 others(1): Show NA18941.hp1 NA18962.hp2 NA18967.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0115	4	388	0.0103	39	c.571 others(56): Show c.571-1108_571-1107insATCCCAGACGATGGGCAGCCGGGCAGAG GCGCTCCTCAC		NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
NGEF_chr2_232873701_233018256	232890030	A A	AGAGGGGG others(32): Show AGAGGGGGTCTCTGTCCTGCCTCACTGGGCCTGTCAGGTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02922.hp2 others(6): Show HG02109.hp2 HG02809.hp2 HG02922.hp2 HG03195.hp1 HG06807.hp1 NA18981.hp1 NA18992.hp1 NA19004.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0002t0009 a0001c0002t0016 others(4): Show a0001c0002t0003 a0001c0002t0009 a0001c0002t0016 a0001c0002t0021 a0001c0002t0034 a0001c0004t0003 a0001c0004t0024	a0001c0002t0003g0049 a0001c0002t0009g0179 a0001c0002t0016g0018 others(6): Show a0001c0002t0003g0049 a0001c0002t0009g0179 a0001c0002t0016g0018 a0001c0002t0021g0010 a0001c0002t0034g0359 a0001c0004t0003g0256 a0001c0004t0003g0277 a0001c0004t0003g0279 a0001c0004t0024g0011	9	360	0.0250	39	c.127 others(58): Show c.1272+1289_1272+1327dupCACCTGACAGGCCCAGTGAGGCAGGA CAGAGACCCCCTC		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	8/14						chr2	TogoVar

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