Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NCAPH_chr2_96330766_96382091	96361749	GATATATA others(53): Show GATATATATATATATATATACATATATATATATACACATATATATGTATA TATATGTGTAT	G G	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	356	0.0028	-60	c.158 others(79): Show c.1587+1059_1587+1118delCATATATATATATACACATATATATG TATATATATGTGTATATATATATATATATATATA		NCAPH	ENSG00000121152.10	transcript	ENST00000240423.9	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
NCBP2L_chrX_107772733_107800829	107782278	TATATATA others(53): Show TATATATAAATATATATATATAAATATATATATAAATATATATATATAAA TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	303	0.0033	-60	c.-73 others(77): Show c.-73+4428_-73+4487delAATATATATATATAAATATATATATAAA TATATATATATAAATATATATATAAATATATA		NCBP2L	ENSG00000170935.8	transcript	ENST00000509000.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chrX	TogoVar
NCOR1_chr17_16024157_16220534	16127111	ATATGTAT others(53): Show ATATGTATATATCTGTATGTATATATACATGTATGTATATATCTGTATGT ATATATACATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	282	0.0036	-60	c.151 others(77): Show c.1510-965_1510-906delCATGTATATATACATACAGATATATACA TACATGTATATATACATACAGATATATACATA		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	14/45						chr17	TogoVar
NDST3_chr4_118029486_118263634	118066460	ACATTATA others(53): Show ACATTATATATGTTATATATTATATATACATTATATATGTTATATATTAT ATATACATTAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01192.hp2 HG02602.hp1 others(4): Show HG00558.hp2 HG01192.hp2 HG02602.hp1 NA18948.hp2 NA18984.hp2 NA19064.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0017 a0001c0003t0006 a0001c0001t0001 a0001c0001t0017 a0001c0003t0006	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0057 a0001c0001t0017g0036 a0001c0003t0006g0023	7	216	0.0324	-60	c.981 others(79): Show c.981+11570_981+11629delCATTATATATGTTATATATTATATAT ACATTATATATGTTATATATTATATATACATTAT		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13						chr4	TogoVar
NDUFAB1_chr16_23576014_23601316	23583603	GCCCCTCC others(53): Show GCCCCTCCGCCCGGCAGCCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGC CCGGCAGCCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(61): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00609.hp2 HG01081.hp1 HG01099.hp1 HG01175.hp1 HG01516.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02572.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18954.hp2 NA18968.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA19001.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0001c0002t0001 a0003c0004t0001	a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0037 others(38): Show a0001c0002t0001g0001 a0001c0002t0001g0015 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0003c0004t0001g0283	64	360	0.1778	-60	c.380 others(77): Show c.380-1288_380-1229delGCGGCTGCCGGGCGGAGGGGCTCCTCAC TTCTCAGACGGGGCGGCTGCCGGGCGGAGGGG		NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4						chr16	TogoVar
NDUFS6_chr5_1796407_1821048	1816752	TGGGAAGG others(53): Show TGGGAAGGCGAGAGGGAAGGCGAGTGGGAAGGCGAGAGGGAAGGCGAGTG GGAAGGCGAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG03516.hp1 others(1): Show HG02486.hp1 HG03453.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	4	444	0.0090	-60	c.83 others(69): Show c.837_*896delGGGAAGGCGAGAGGGAAGGCGAGTGGGAAGGCGAGA GGGAAGGCGAGTGGGAAGGCGAGA		NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding					705		chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1816812	AGGGAAGG others(53): Show AGGGAAGGCGAGAGGGAAGGCGAGAGGGAAGGCGAGTGGGAAGGCGAGAG GGAAGGCGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	444	0.0023	-60	c.89 others(69): Show c.897_*956delGGGAAGGCGAGAGGGAAGGCGAGAGGGAAGGCGAGT GGGAAGGCGAGAGGGAAGGCGAGT		NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding					765		chr5	TogoVar
NDUFS6_chr5_1796407_1821048	1816844	CGAGTGGG others(53): Show CGAGTGGGAAGGCGAGAGGGAAGGCGAGTGGGAAGGCGAGAGGGAAGGCG AGAGGGAAGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	444	0.0023	-60	c.92 others(69): Show c.929_*988delGAGTGGGAAGGCGAGAGGGAAGGCGAGTGGGAAGGC GAGAGGGAAGGCGAGAGGGAAGGT		NDUFS6	ENSG00000145494.12	transcript	ENST00000274137.10	protein_coding					797		chr5	TogoVar
NEU4_chr2_241804193_241822413	241805942	TCCCCCCT others(53): Show TCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCCTCAGCCCAAGGGACC TAGGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG02738.hp2 others(1): Show HG00323.hp2 HG00639.hp2 HG02738.hp2 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0001 a0001c0004t0001 a0002c0003t0002 a0001c0002t0001 a0001c0004t0001 a0002c0003t0002	a0001c0002t0001g0136 a0001c0004t0001g0062 a0002c0003t0002g0036 others(1): Show a0001c0002t0001g0136 a0001c0004t0001g0062 a0002c0003t0002g0036 a0002c0003t0002g0133	4	319	0.0125	-60	c.-33 others(71): Show c.-3335_-3276delCCCCCCTCAGCCCAGGGACCTCCTCCCTCCCCCC TCAGCCCAAGGGACCTAGGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3250		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(53): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0194 a0001c0001t0002g0195	2	268	0.0075	-60	c.-89 others(69): Show c.-899_-840delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					711		chr1	TogoVar
NFASC_chr1_204823652_205027822	204877021	TATATATA others(53): Show TATATATAATATATATTTATATATATATAATATATTTATTTATATATTTA TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp2 HG02258.hp2 others(8): Show HG00558.hp1 HG00673.hp2 HG02258.hp2 HG03540.hp1 NA18612.hp2 NA18970.hp1 NA18975.hp2 NA19003.hp2 NA19009.hp1 NA19010.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0041 a0002c0003 a0002c0006 a0002c0008 a0003c0018	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0004t0005 a0001c0041t0003 a0002c0003t0001 a0002c0006t0001 a0002c0006t0002 a0002c0008t0012 a0003c0018t0018	a0001c0001t0001g0053 a0001c0001t0006g0003 a0001c0002t0001g0027 others(8): Show a0001c0001t0001g0053 a0001c0001t0006g0003 a0001c0002t0001g0027 a0001c0004t0005g0153 a0001c0041t0003g0118 a0002c0003t0001g0024 a0002c0006t0001g0017 a0002c0006t0001g0037 a0002c0006t0002g0021 a0002c0008t0012g0026 a0003c0018t0018g0145	11	226	0.0487	-60	c.-19 others(81): Show c.-199-43610_-199-43551delATATATAATATATATTTATATATA TATAATATATTTATTTATATATTTATATATATATAA		NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	1/29						chr1	TogoVar
NFASC_chr1_204865862_205027822	204877021	TATATATA others(53): Show TATATATAATATATATTTATATATATATAATATATTTATTTATATATTTA TATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG02258.hp2 others(9): Show HG00558.hp1 HG00673.hp1 HG02258.hp2 HG03540.hp2 NA18612.hp1 NA18970.hp1 NA18975.hp1 NA18983.hp2 NA19003.hp1 NA19009.hp1 NA19010.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0013	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0014 a0001c0006t0004 a0002c0013t0011	a0001c0001t0001g0202 a0001c0001t0001g0257 a0001c0001t0006g0258 others(9): Show a0001c0001t0001g0202 a0001c0001t0001g0257 a0001c0001t0006g0258 a0001c0002t0001g0203 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0002g0205 a0001c0002t0003g0201 a0001c0002t0013g0217 a0001c0002t0014g0204 a0001c0006t0004g0184 a0002c0013t0011g0185	12	264	0.0455	-60	c.-91 others(77): Show c.-91+5952_-91+6011delATATATAATATATATTTATATATATATA ATATATTTATTTATATATTTATATATATATAA		NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27						chr1	TogoVar
NFATC1_chr18_79390930_79534323	79444708	ACTGCACA others(53): Show ACTGCACACACAGGCACCCCCGTGGGCACACACGTGCCCGACCCCACAGA CCACACCGGCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG02027.hp2 others(14): Show HG01243.hp2 HG01255.hp1 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18946.hp1 NA18970.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0001c0006 a0001c0008 others(6): Show a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0038 a0001c0048 a0001c0050 a0002c0002 a0005c0031	a0001c0004t0004 a0001c0006t0002 a0001c0006t0048 others(12): Show a0001c0004t0004 a0001c0006t0002 a0001c0006t0048 a0001c0008t0005 a0001c0008t0012 a0001c0008t0046 a0001c0010t0004 a0001c0038t0002 a0001c0048t0005 a0001c0050t0055 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0002c0002t0038 a0005c0031t0004	a0001c0004t0004g0282 a0001c0006t0002g0307 a0001c0006t0048g0049 others(14): Show a0001c0004t0004g0282 a0001c0006t0002g0307 a0001c0006t0048g0049 a0001c0008t0005g0288 a0001c0008t0012g0009 a0001c0008t0046g0284 a0001c0010t0004g0289 a0001c0038t0002g0090 a0001c0048t0005g0283 a0001c0050t0055g0095 a0002c0002t0001g0235 a0002c0002t0001g0261 a0002c0002t0003g0141 a0002c0002t0003g0150 a0002c0002t0010g0265 a0002c0002t0038g0122 a0005c0031t0004g0011	17	322	0.0528	-60	c.138 others(79): Show c.1387-4049_1387-3990delGCACACACGTGCCCGACCCCACAGAC CACACCGGCGCTGCACACACAGGCACCCCCGTGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79444733	GCACACAC others(53): Show GCACACACGTGCCCGACCCCACAGACCACACCGGCGCTGCACACACAGGC ACCCCCGTGGC	G G	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02559.hp1 HG02572.hp1 others(7): Show HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03516.hp2 NA19043.hp2 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0005 a0001c0013 a0001c0035 others(2): Show a0001c0005 a0001c0013 a0001c0035 a0001c0056 a0007c0033	a0001c0005t0005 a0001c0013t0005 a0001c0013t0007 others(5): Show a0001c0005t0005 a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 a0001c0013t0056 a0001c0035t0054 a0001c0056t0009 a0007c0033t0026	a0001c0005t0005g0083 a0001c0013t0005g0114 a0001c0013t0005g0310 others(7): Show a0001c0005t0005g0083 a0001c0013t0005g0114 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0035t0054g0312 a0001c0056t0009g0137 a0007c0033t0026g0101	10	322	0.0311	-60	c.138 others(79): Show c.1387-4041_1387-3982delGTGCCCGACCCCACAGACCACACCGG CGCTGCACACACAGGCACCCCCGTGGCCACACAC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79483083	ACTGGGGT others(53): Show ACTGGGGTGTAATTCCAGCGTGACCTGGTTCCTGGGGTGTAATTCCAGCG TGACCTGGTTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0005 a0002c0026t0005	a0002c0026t0005g0066 a0002c0026t0005g0066	1	322	0.0031	-60	c.209 others(79): Show c.2093-3076_2093-3017delTCCTGGGGTGTAATTCCAGCGTGACC TGGTTCCTGGGGTGTAATTCCAGCGTGACCTGGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79483437	GTCCTGGG others(53): Show GTCCTGGGGTGTAAGTCCAGCGTGACCTGGTTCCTGGGGTGTCACTCCGG CGTGACCTGGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG01517.hp2 others(2): Show HG00733.hp2 HG01123.hp1 HG01517.hp2 HG02559.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0001c0029 a0003c0007 a0001c0008 a0001c0029 a0003c0007	a0001c0008t0012 a0001c0029t0004 a0003c0007t0002 others(1): Show a0001c0008t0012 a0001c0029t0004 a0003c0007t0002 a0003c0007t0008	a0001c0008t0012g0009 a0001c0029t0004g0096 a0003c0007t0002g0025 others(2): Show a0001c0008t0012g0009 a0001c0029t0004g0096 a0003c0007t0002g0025 a0003c0007t0008g0020 a0003c0007t0008g0031	5	322	0.0155	-60	c.209 others(79): Show c.2093-2799_2093-2740delAAGTCCAGCGTGACCTGGTTCCTGGG GTGTCACTCCGGCGTGACCTGGTTCCTGGGGTGT		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NGB_chr14_77260483_77276206	77269665	CCTTTCTC others(53): Show CCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 NA18994.hp1 HG00323.hp1 HG01106.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0070 a0001c0001t0001g0113 a0001c0007t0001g0193 a0001c0001t0001g0070 a0001c0001t0001g0113 a0001c0007t0001g0193	3	366	0.0082	-60	c.90- others(73): Show c.90-399_90-340delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAAAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269744	TCTCTCTC others(53): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTC TCCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	366	0.0027	-60	c.90- others(73): Show c.90-478_90-419delGGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NKD1_chr16_50543396_50654249	50563848	TCATGGAG others(53): Show TCATGGAGAAGACCCTGTGTGTCAGGCTAAACTCCATCCTCAGTGGGCAC AGCCCTGGATG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00741.hp1 others(19): Show HG00280.hp2 HG00408.hp1 HG00741.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp1 HG01516.hp1 HG01943.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02148.hp1 HG03195.hp2 HG03540.hp2 HG03834.hp2 HG04184.hp1 NA18992.hp1 NA19000.hp1 NA19005.hp2 NA19011.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0024 a0001c0001t0049 a0001c0001t0053 a0001c0001t0068 a0001c0001t0069 a0001c0003t0004	a0001c0001t0001g0084 a0001c0001t0002g0163 a0001c0001t0003g0006 others(19): Show a0001c0001t0001g0084 a0001c0001t0002g0163 a0001c0001t0003g0006 a0001c0001t0005g0164 a0001c0001t0005g0166 a0001c0001t0005g0167 a0001c0001t0005g0168 a0001c0001t0005g0171 a0001c0001t0005g0174 a0001c0001t0005g0177 a0001c0001t0010g0175 a0001c0001t0013g0178 a0001c0001t0013g0179 a0001c0001t0013g0180 a0001c0001t0021g0165 a0001c0001t0021g0169 a0001c0001t0024g0005 a0001c0001t0049g0170 a0001c0001t0053g0160 a0001c0001t0068g0161 a0001c0001t0069g0162 a0001c0003t0004g0181	22	212	0.1038	-60	c.192 others(79): Show c.192+14402_192+14461delCAGCCCTGGATGCATGGAGAAGACCC TGTGTGTCAGGCTAAACTCCATCCTCAGTGGGCA		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP4_chr19_55831540_55886855	55850092	TGGCTGCG others(53): Show TGGCTGCGGTGTAATTACCGTAGCTGCGGTGTAATTTCCGTGGCTGCGGT GTAATTTCCGA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18952.hp1 HG03471.hp2 NA18952.hp1	a0002 a0005 a0002 a0005	a0002c0017 a0005c0020 a0002c0017 a0005c0020	a0002c0017t0020 a0005c0020t0014 a0002c0017t0020 a0005c0020t0014	a0002c0017t0020g0284 a0005c0020t0014g0210 a0002c0017t0020g0284 a0005c0020t0014g0210	2	424	0.0047	-60	c.-65 others(77): Show c.-65-1908_-65-1849delACCGTAGCTGCGGTGTAATTTCCGTGGC TGCGGTGTAATTTCCGAGGCTGCGGTGTAATT		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850427	GTCCGTGG others(53): Show GTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAGGCT GCGGTGTAATT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0229 a0002c0002t0015g0229	1	424	0.0024	-60	c.-65 others(77): Show c.-65-1584_-65-1525delTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTAATTTCCGAGGCTGCGGTGTAATTTCCG		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850572	TGGCTGCG others(53): Show TGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02698.hp1 HG01167.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0146 a0001c0001t0001g0043 a0001c0001t0001g0146	2	424	0.0047	-60	c.-65 others(77): Show c.-65-1429_-65-1370delTTCCGTGGCTGCGGTGTAATTTACGAGG CTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850645	ATGTCCGA others(53): Show ATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGG CTGCGGTGTAC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0230 a0001c0005t0013g0230	1	424	0.0024	-60	c.-65 others(77): Show c.-65-1369_-65-1310delGTCCGAGGCTGCGGTGTAATGTCCGTGG CTGCGGTGTAATGTCCGTGGCTGCGGTGTACT		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850809	CCGAGGCT others(53): Show CCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGC GGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0017 a0001c0005t0009g0017	1	424	0.0024	-60	c.-65 others(77): Show c.-65-1184_-65-1125delAGGCTGCGGTGTAATTTACGAGGCTGCG GTGTAATTTACGAGGCTGCGGTGTAATGTCCG		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850929	CCGTGGCT others(53): Show CCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGC GGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18989.hp1 NA19057.hp1 NA18952.hp2 NA18989.hp1 NA19057.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0041 a0001c0001 a0002c0002 a0005c0041	a0001c0001t0003 a0002c0002t0002 a0005c0041t0003 a0001c0001t0003 a0002c0002t0002 a0005c0041t0003	a0001c0001t0003g0180 a0002c0002t0002g0250 a0005c0041t0003g0199 a0001c0001t0003g0180 a0002c0002t0002g0250 a0005c0041t0003g0199	3	424	0.0071	-60	c.-65 others(77): Show c.-65-1084_-65-1025delTGGCTGCGGTGTAATGTCCGAGGCTGCG GTGTAATGTCCGTGGCTGCGGTGTAATTTACG		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850932	TGGCTGCG others(53): Show TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGT GTAATTTACGA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0003 a0005c0012t0003	a0005c0012t0003g0201 a0005c0012t0003g0201	1	424	0.0024	-60	c.-65 others(77): Show c.-65-1064_-65-1005delAGGCTGCGGTGTAATGTCCGTGGCTGCG GTGTAATTTACGAGGCTGCGGTGTAATGTCCG		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851209	CCGTGGCT others(53): Show CCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATTTACGAGGCTGC GGTGTAATTTA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG03139.hp2 others(2): Show HG02145.hp1 HG02559.hp1 HG03139.hp2 HG03453.hp1 NA18967.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0043 others(1): Show a0001c0001 a0002c0002 a0002c0043 a0003c0008	a0001c0001t0010 a0002c0002t0005 a0002c0043t0005 others(1): Show a0001c0001t0010 a0002c0002t0005 a0002c0043t0005 a0003c0008t0001	a0001c0001t0010g0344 a0002c0002t0005g0359 a0002c0002t0005g0362 others(2): Show a0001c0001t0010g0344 a0002c0002t0005g0359 a0002c0002t0005g0362 a0002c0043t0005g0361 a0003c0008t0001g0172	5	424	0.0118	-60	c.-65 others(75): Show c.-65-804_-65-745delTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGAGGCTGCGGTGTAATTTACG		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851232	AGGCTGCG others(53): Show AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0007 a0015c0030t0007	a0015c0030t0007g0331 a0015c0030t0007g0331	1	424	0.0024	-60	c.-65 others(75): Show c.-65-769_-65-710delTTACGAGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAAT		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851392	AGGCTGCG others(53): Show AGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATTTACGAGGCTGCGGT GTAATGTCCGT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG06807.hp1 HG02886.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0011 a0002c0003t0012 a0002c0002t0011 a0002c0003t0012	a0002c0002t0011g0241 a0002c0003t0012g0221 a0002c0002t0011g0241 a0002c0003t0012g0221	2	424	0.0047	-60	c.-65 others(75): Show c.-65-609_-65-550delTTACGAGGCTGCGGTGTAATTTACGAGGCT GCGGTGTAATGTCCGTGGCTGCGGTGTAAT		NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56005150	CACACACA others(53): Show CACACACATATACACATATATTTTTATATATACACACATATTTTTATATA CACATACACAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	396	0.0025	-60	c.442 others(77): Show c.442+1096_442+1155delTTTTATATACACATACACATACACACAT ATACACATATATTTTTATATATACACACATAT		NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
NME7_chr1_169127531_169372797	169355030	TTATATAT others(53): Show TTATATATTATAGATATAATATATAATATACTATATATTATAGATATAAT ATATAATATAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03710.hp2 HG04184.hp1 HG03471.hp2 HG03710.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0136 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0136	3	302	0.0099	-60	c.3+1 others(75): Show c.3+12618_3+12677delGTATATTATATATTATATCTATAATATATA GTATATTATATATTATATCTATAATATATA		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME8_chr7_37843597_37905397	37848185	AGAAGAAG others(53): Show AGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01243.hp1 HG01496.hp2 others(10): Show HG00733.hp1 HG01243.hp1 HG01496.hp2 HG02683.hp2 HG03491.hp1 HG03492.hp1 HG04184.hp1 NA18951.hp1 NA18980.hp1 NA19005.hp2 NA19057.hp1 NA19060.hp2 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0001c0004t0003 a0001c0007t0001 a0001c0007t0003 a0004c0005t0001 a0004c0005t0003	a0001c0001t0001g0064 a0001c0001t0001g0166 a0001c0001t0003g0056 others(9): Show a0001c0001t0001g0064 a0001c0001t0001g0166 a0001c0001t0003g0056 a0001c0004t0001g0118 a0001c0004t0003g0084 a0001c0004t0003g0089 a0001c0007t0001g0013 a0001c0007t0001g0171 a0001c0007t0003g0106 a0004c0005t0001g0037 a0004c0005t0001g0168 a0004c0005t0003g0030	13	388	0.0335	-60	c.-78 others(69): Show c.-783_-724delGAAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					411		chr7	TogoVar
NOL4L_chr20_32438059_32590333	32488767	CTTCCTTC others(53): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG01243.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0192 a0001c0004t0012g0193 a0001c0004t0012g0192 a0001c0004t0012g0193	2	196	0.0102	-60	c.700 others(79): Show c.700-14085_700-14026delAAGAAAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAA		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488770	CCTTCCTT others(53): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	196	0.0051	-60	c.700 others(79): Show c.700-14088_700-14029delAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488778	CCTTCCTT others(53): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	196	0.0051	-60	c.700 others(79): Show c.700-14096_700-14037delAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGGAAGGAAGGAAG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NOL4L_chr20_32438059_32590333	32488782	CCTTCCTT others(53): Show CCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0074 a0001c0001t0019g0074	1	196	0.0051	-60	c.700 others(79): Show c.700-14100_700-14041delAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAAAAAGAAAGAAAGAAAGGAAGGAAG		NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10						chr20	TogoVar
NR2C2AP_chr19_19196409_19208414	19207460	CGTTGTAC others(53): Show CGTTGTACATGGCTGAGTGTGGTTGTGTATGGCTGGGTGTGGTTGTGCAT GGCTGGGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	-60	c.-44 others(71): Show c.-4460_-4401delCACACCCAGCCATGCACAACCACACCCAGCCATA CACAACCACACTCAGCCATGTACAAC		NR2C2AP	ENSG00000184162.15	transcript	ENST00000331552.12	protein_coding					4047		chr19	TogoVar
NRCAM_chr7_108142649_108461436	108163865	GGGGTGGC others(53): Show GGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp1 HG02647.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0004 a0002c0006t0005 a0001c0003t0004 a0002c0006t0005	a0001c0003t0004g0183 a0002c0006t0005g0040 a0001c0003t0004g0183 a0002c0006t0005g0040	2	208	0.0096	-60	c.346 others(79): Show c.3466+2996_3466+3055delACCCGGTATGACCTCTCACTACCCCA CCCCACCCGGTATGACCTCTCATTACCGCCACCC		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163926	GGGGTGGC others(53): Show GGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp1 HG02055.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0003 a0002c0008t0010 a0001c0001t0003 a0002c0008t0010	a0001c0001t0003g0109 a0002c0008t0010g0004 a0001c0001t0003g0109 a0002c0008t0010g0004	2	208	0.0096	-60	c.346 others(79): Show c.3466+2935_3466+2994delACCCGGTATGACCTCTCACTACCCCA CCCCACCCGGTATGACCTCTCATTACCGCCACCC		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NSMF_chr9_137442570_137464334	137450520	TTTGATCT others(53): Show TTTGATCTCCCCCACCACACACCTCTTCCCTTTGATCTCCCCCACCACAC GCCTCTTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02647.hp2 others(9): Show HG02109.hp1 HG02630.hp1 HG02647.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03453.hp2 HG03516.hp1 HG04115.hp1 HG04204.hp1 NA18988.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0067 a0001c0001t0001g0100 a0001c0001t0001g0143 a0001c0003t0003g0046	12	414	0.0290	-60	c.123 others(77): Show c.1237-325_1237-266delGGGGAAGAGGCGTGTGGTGGGGGAGATC AAAGGGAAGAGGTGTGTGGTGGGGGAGATCAA		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15						chr9	TogoVar
NUMB_chr14_73270216_73463546	73352451	CACACACA others(53): Show CACACACATACACACACACACACACACATATATATATATATATATATATA TATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02451.hp1 HG02717.hp2 others(3): Show HG01243.hp1 HG02451.hp1 HG02717.hp2 HG02809.hp1 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0018	6	322	0.0186	-60	c.126 others(77): Show c.126+3115_126+3174delATATATATATATATATATATATATATAT ATATATGTGTGTGTGTGTGTGTGTATGTGTGT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NUMB_chr14_73270216_73463546	73352453	CACACATA others(53): Show CACACATACACACACACACACACACATATATATATATATATATATATATA TATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	322	0.0031	-60	c.126 others(77): Show c.126+3113_126+3172delATATATATATATATATATATATATATAT ATATATATGTGTGTGTGTGTGTGTGTATGTGT		NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12						chr14	TogoVar
NXN_chr17_794310_984776	894110	TCCCTGGA others(53): Show TCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGAGGAAG CATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	242	0.0041	-60	c.361 others(79): Show c.361-68092_361-68033delCGTTTGAGATGCTTCCTCTGGCTTCC AGGGCGTTTGAGATGCTTCCTCTGGCTTCCAGGG		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OCA2_chr15_27749875_28104315	27770728	CCCTCCCT others(53): Show CCCTCCCTTCCTCTTTTCCTTCCTTCCTTCCTCTCTCCCTCCCTCCCTTC CATCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01069.hp1 others(11): Show HG00280.hp1 HG00735.hp1 HG01069.hp1 HG01099.hp1 HG01099.hp2 HG01255.hp2 HG01943.hp2 HG02148.hp1 HG02809.hp2 HG03195.hp1 HG03490.hp1 HG03831.hp2 NA18522.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0002 a0001c0003 a0001c0006 others(5): Show a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0036 a0002c0016 a0006c0025 a0011c0022	a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0001c0036t0001 a0002c0016t0001 a0006c0025t0001 a0011c0022t0001	a0001c0002t0001g0045 a0001c0002t0001g0057 a0001c0002t0001g0059 others(11): Show a0001c0002t0001g0045 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0003t0001g0096 a0001c0006t0001g0052 a0001c0010t0001g0023 a0001c0036t0001g0084 a0002c0016t0001g0047 a0006c0025t0001g0067 a0011c0022t0001g0102	14	110	0.1273	-60	c.243 others(81): Show c.2433-15316_2433-15257delAAGGAAGGATGGAAGGGAGGGAGG GAGAGAGGAAGGAAGGAAGGAAAAGAGGAAGGGAGG		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	23/23						chr15	TogoVar
OCA2_chr15_27749875_28104315	27913868	AAAGAAAG others(53): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGCAAGCAAGCAAGCAAGCAAGCA AGCAAGCAAGC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp1 HG06807.hp2 others(1): Show HG02451.hp1 HG02965.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0073 a0001c0005t0001g0091 a0001c0005t0001g0092 others(1): Show a0001c0005t0001g0073 a0001c0005t0001g0091 a0001c0005t0001g0092 a0001c0005t0001g0094	4	110	0.0364	-60	c.207 others(81): Show c.2079+12199_2079+12258delGCTTGCTTGCTTGCTTGCTTGCTT GCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTT		OCA2	ENSG00000104044.16	transcript	ENST00000354638.8	protein_coding	19/23						chr15	TogoVar
OGFOD3_chr17_82384210_82423586	82412318	GTCGGGGC others(53): Show GTCGGGGCAGGGGCATGGTTATCGGGGCAGGGGCATGGTTATCGGGGCAG GGGCATGGTTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0030 a0001c0003t0010 a0001c0003t0030	a0001c0003t0010g0066 a0001c0003t0030g0065 a0001c0003t0010g0066 a0001c0003t0030g0065	2	348	0.0058	-60	c.305 others(75): Show c.305-848_305-789delTAACCATGCCCCTGCCCCGATAACCATGCC CCTGCCCCGATAACCATGCCCCTGCCCCGA		OGFOD3	ENSG00000181396.13	transcript	ENST00000313056.10	protein_coding	2/8						chr17	TogoVar
OGFR_chr20_62799835_62819000	62813162	GGAGCCCA others(53): Show GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGAC GAGCCAGCCGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04199.hp2 HG04199.hp2	a0026 a0026	a0026c0057 a0026c0057	a0026c0057t0001 a0026c0057t0001	a0026c0057t0001g0098 a0026c0057t0001g0098	1	422	0.0024	-60	c.157 others(69): Show c.1573_1632delAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGAG AGCCCATCGGAGACCCCAGGCCCC	p.Ser others(13): Show p.Ser525_Pro544del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1598/2410	1573/2034	525/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OGFR_chr20_62799835_62819000	62813253	AGCAGGAC others(53): Show AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAG GCCCCCGCCCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00642.hp1 HG00735.hp2 others(13): Show HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01516.hp1 HG01517.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02735.hp2 HG03453.hp1 HG03669.hp2 HG03704.hp1 NA20805.hp2	a0005 a0018 a0005 a0018	a0005c0008 a0005c0024 a0018c0025 a0005c0008 a0005c0024 a0018c0025	a0005c0008t0001 a0005c0024t0001 a0018c0025t0001 a0005c0008t0001 a0005c0024t0001 a0018c0025t0001	a0005c0008t0001g0013 a0005c0008t0001g0017 a0005c0008t0001g0044 others(5): Show a0005c0008t0001g0013 a0005c0008t0001g0017 a0005c0008t0001g0044 a0005c0008t0001g0054 a0005c0008t0001g0106 a0005c0008t0001g0120 a0005c0024t0001g0017 a0018c0025t0001g0052	16	422	0.0379	-60	c.169 others(69): Show c.1693_1752delCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAG AGCCCATCGGAGACCCCAGGCCCC	p.Arg others(13): Show p.Arg565_Pro584del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1718/2410	1693/2034	565/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OGFR_chr20_62799835_62819000	62813308	CGCCCGGC others(53): Show CGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGAC CCCAGGCCCCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19088.hp1 NA19088.hp1	a0032 a0032	a0032c0052 a0032c0052	a0032c0052t0002 a0032c0052t0002	a0032c0052t0002g0004 a0032c0052t0002g0004	1	422	0.0024	-60	c.170 others(69): Show c.1708_1767delGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACC CCAGGCCCCAGCCCGGCAGGACCT	p.Ala others(13): Show p.Ala570_Pro589del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1733/2410	1708/2034	570/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OGFR_chr20_62799835_62819000	62813331	CGAGCCAG others(53): Show CGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGAC CTACAAGGGAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02683.hp1 NA18985.hp2 NA19004.hp1 others(1): Show HG02683.hp1 NA18985.hp2 NA19004.hp1 NA19068.hp2	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0047 a0013c0020t0002g0061 a0013c0020t0002g0114 a0013c0020t0002g0047 a0013c0020t0002g0061 a0013c0020t0002g0114	4	422	0.0095	-60	c.175 others(69): Show c.1753_1812delAGCCCGGCAGGACCTACAAGGGATGAGCCAGCCGAG AGCCCATCGGAGACCCCAGGCCCC	p.Ser others(13): Show p.Ser585_Pro604del	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1778/2410	1753/2034	585/677		INFO_REALIGN_3_PRIME	chr20	TogoVar

Search by Variant

Search

Search Results