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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCOR2_chr12_124319415_124572612	124373493	A A	AATCATGA others(41): Show AATCATGAGGCCAGTGCGTGCGCAGGGGCCCCGGGCACAGTGGACAATC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02027.hp2 others(8): Show HG00621.hp2 HG00673.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02165.hp1 HG03834.hp1 NA18940.hp2 NA18966.hp1 NA19067.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0026 a0028	a0002c0006 a0002c0016 a0002c0153 others(7): Show a0002c0006 a0002c0016 a0002c0153 a0003c0025 a0004c0095 a0005c0067 a0005c0069 a0005c0140 a0026c0130 a0028c0127	a0002c0006t0020 a0002c0016t0016 a0002c0153t0005 others(8): Show a0002c0006t0020 a0002c0016t0016 a0002c0153t0005 a0003c0025t0011 a0003c0025t0024 a0004c0095t0034 a0005c0067t0008 a0005c0069t0024 a0005c0140t0012 a0026c0130t0016 a0028c0127t0004	a0002c0006t0020g0092 a0002c0016t0016g0074 a0002c0153t0005g0219 others(8): Show a0002c0006t0020g0092 a0002c0016t0016g0074 a0002c0153t0005g0219 a0003c0025t0011g0045 a0003c0025t0024g0206 a0004c0095t0034g0209 a0005c0067t0008g0026 a0005c0069t0024g0207 a0005c0140t0012g0002 a0026c0130t0016g0047 a0028c0127t0004g0009	11	231	0.0476	48	c.221 others(65): Show c.2219-884_2219-883insGATTGTCCACTGTGCCCGGGGCCCCTGC GCACGCACTGGCCTCATGAT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	21/48			chr12	TogoVar
NCOR2_chr12_124319415_124572612	124428044	A A	AGTGTGTG others(41): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0045 a0003c0044t0045	a0003c0044t0045g0061 a0003c0044t0045g0061	1	21	0.0476	48	c.115 others(67): Show c.1150-1245_1150-1244insACACACACACACACACACACACACAC ACACACACACACACACACACAC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	12/48			chr12	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02300.hp2 HG02109.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0062 a0001c0001t0002g0064	2	158	0.0127	48	c.594 others(63): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17			chr1	TogoVar
NECAB1_chr8_90786775_90964393	90865017	G G	GCCCCACT others(41): Show GCCCCACTGGGAAGCACATTGTTAAGGGCAAGTTCCCCAGTGATAGGGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	246	0.0041	48	c.234 others(65): Show c.234-7102_234-7101insGAAGCACATTGTTAAGGGCAAGTTCCCC AGTGATAGGGACCCCACTGG	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NECAB1_chr8_90786775_90964393	90906874	C C	CATATATA others(41): Show CATATATATATATATATATGTATATATATATATATGTATGTATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0140 a0001c0001t0018g0140	1	239	0.0042	48	c.358 others(67): Show c.358-10617_358-10616insTATATATATATATATATGTATATATA TATATATGTATGTATATATATA	NECAB1	ENSG00000123119.12	transcript	ENST00000417640.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
NEDD9_chr6_11178298_11237668	11188011	G G	GTTTAGAT others(41): Show GTTTAGATGGAACCCAGGTTACACCCAGTTGAAACTAACAAGGTCATAA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0191 a0001c0004t0002g0191	1	396	0.0025	48	c.199 others(65): Show c.1995+206_1995+207insTTATGACCTTGTTAGTTTCAACTGGGTG TAACCTGGGTTCCATCTAAA	NEDD9	ENSG00000111859.17	transcript	ENST00000379446.10	protein_coding	6/6			chr6	TogoVar
NEGR1_chr1_71390943_72287539	71928352	A A	ATATACAC others(41): Show ATATACACACATATGTATATATGTATATATACACACATATGTATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG01109.hp2 others(6): Show HG00597.hp2 HG00639.hp1 HG01109.hp2 HG01884.hp1 HG02922.hp1 HG03195.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0002c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0035 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0004g0063 a0001c0002t0002g0044 a0002c0007t0001g0064	9	48	0.1875	48	c.409 others(65): Show c.409+6726_409+6727insCATATATACATATGTGTGTATATATACA TATATACATATGTGTGTATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NEK10_chr3_27101484_27374383	27282548	A A	ATATATAT others(41): Show ATATATATATATATACATAACTGTGTTATATATATATACATAACTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0005 a0004c0005t0024 a0004c0005t0005 a0004c0005t0024	a0004c0005t0005g0088 a0004c0005t0024g0228 a0004c0005t0005g0088 a0004c0005t0024g0228	2	116	0.0172	48	c.201 others(67): Show c.2014+2053_2014+2054insACACAGTTATGTATATATATATAACA CAGTTATGTATATATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK1_chr4_169387809_169617583	169612703	T T	TCGGGCGG others(41): Show TCGGGCGGGGTGCTGTGCGAAGGGGCGGGCGGGGTGCTGTGCGAAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(35): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp2 HG01243.hp2 HG01255.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG01952.hp1 HG01975.hp2 HG02040.hp2 HG02257.hp1 HG02273.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA18974.hp1 NA19058.hp1 NA19068.hp2 NA19084.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0020 others(2): Show a0001c0001 a0001c0006 a0001c0020 a0002c0002 a0003c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0006t0004 a0001c0020t0011 a0002c0002t0003 a0003c0007t0004	a0001c0001t0002g0052 a0001c0001t0004g0023 a0001c0001t0004g0024 others(35): Show a0001c0001t0002g0052 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0031 a0001c0001t0007g0056 a0001c0006t0004g0026 a0001c0006t0004g0047 a0001c0006t0004g0048 a0001c0006t0004g0049 a0001c0006t0004g0050 a0001c0006t0004g0053 a0001c0020t0011g0157 a0002c0002t0003g0076 a0003c0007t0004g0025 a0003c0007t0004g0033 a0003c0007t0004g0034 a0003c0007t0004g0037 a0003c0007t0004g0038 a0003c0007t0004g0039	38	170	0.2235	48	c.-65 others(57): Show c.-655_-654insCCCCTTCGCACAGCACCCCGCCCGCCCCTTCGCACA GCACCCCGCCCG	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding		121		chr4	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	4	0.2500	48	c.209 others(67): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEO1_chr15_73047463_73310205	73295125	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	194	0.0052	48	c.390 others(67): Show c.3901+1595_3901+1596insATATATATATATATATATATATATAT ATATATATATATATATATATAT	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEXN_chr1_77883624_77948895	77887920	T T	TCTTCTCC others(41): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	254	0.0039	48	c.-89 others(57): Show c.-892_-891insCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		703		chr1	TogoVar
NEXN_chr1_77883624_77948895	77887926	T T	TCTTCTCC others(41): Show TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	222	0.0045	48	c.-88 others(57): Show c.-886_-885insCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		697		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79455746	T T	TCATGGCC others(41): Show TCATGGCCGCCCCATCCCACGGCCGCCCCATCCCACGGCCGCCCCATCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0178 a0002c0002t0003g0178	1	8	0.1250	48	c.190 others(67): Show c.1903+3932_1903+3933insTGGCCGCCCCATCCCACGGCCGCCCC ATCCCACGGCCGCCCCATCCCA	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494327	G G	GGCCGGGG others(41): Show GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0009 a0001c0056t0009	a0001c0056t0009g0140 a0001c0056t0009g0140	1	301	0.0033	48	c.278 others(67): Show c.2782+7523_2782+7570dupCGACCTGGTACCGCCGGGGGAAGGCG AGAGCGGGCACACGCCCCCCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494635	G G	AGGCACAC others(41): Show AGGCACACGCCCCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0136 a0001c0005t0009g0136	1	320	0.0031	48	c.278 others(67): Show c.2782+7697_2782+7698insAGGCACACGCCCCCCATCGACCTGGT ACCGCCGGGGGAAGGCGAGAGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9			chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494663	C C	CGCCAGGG others(41): Show CGCCAGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03516.hp1 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0056 a0001c0005t0005g0111 a0001c0005t0005g0056 a0001c0005t0005g0111	2	320	0.0063	48	c.278 others(67): Show c.2782+7729_2782+7730insAGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTGCGGCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFE2L3_chr7_26147198_26192137	26148248	G G	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCCTCCGGGAGGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	363	0.0028	48	c.-42 others(59): Show c.-4251_-4250insGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCC TCCGGGAGGGAGCT	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3949		chr7	TogoVar
NFE2L3_chr7_26147198_26192137	26148399	G G	GCCCCCCG others(41): Show GCCCCCCGCCCGGCCAGCCGCCCCCTCCGGAGGGAGCTGGGGGGTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0215 a0001c0002t0002g0215	1	398	0.0025	48	c.-41 others(59): Show c.-4100_-4099insCCCCCCGCCCGGCCAGCCGCCCCCTCCGGAGGGA GCTGGGGGGTCAGC	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding		3798		chr7	TogoVar
NFIA_chr1_61077561_61467788	61310764	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	77	0.0130	48	c.626 others(67): Show c.626-21715_626-21714insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACACA others(41): Show CACACACACATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0052 a0002c0004t0001g0052	1	49	0.0204	48	c.11 others(61): Show c.11418_*11419insACACACACATATATATATATATATATATATAT ATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3951		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466738	C C	CACACATA others(41): Show CACACATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0111	1	49	0.0204	48	c.11 others(61): Show c.11418_*11419insACACATATATATATATATATATATATATATAT ATATATATATATATAT	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3951		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA19064.hp1 HG00738.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0020 a0001c0001t0007g0091 a0001c0001t0001g0020 a0001c0001t0007g0091	2	121	0.0165	48	c.11 others(61): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATATATCTCTC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3968		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19088.hp1 NA19003.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0054 a0001c0002t0001g0151 a0001c0001t0001g0054 a0001c0002t0001g0151	2	121	0.0165	48	c.11 others(61): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATATCTCTCTC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3968		chr1	TogoVar
NFIA_chr1_61077561_61467788	61466755	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	120	0.0083	48	c.11 others(61): Show c.11435_*11436insTATATATATATATATATATATATATATATATA TATATATCTCTCTCTC	NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding		3968		chr1	TogoVar
NFILZ_chr19_8625633_8686151	8653062	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0056 a0001c0001t0138g0056	1	278	0.0036	48	c.-16 others(69): Show c.-164+17331_-164+17332insTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTCTCTCTCTCTCT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232899990	T T	TCACACAC others(41): Show TCACACACACGCTCTCAGTCATATACACGTTCACTCACATTCACTCACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03516.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0016 a0001c0003 a0004c0016	a0001c0003t0019 a0004c0016t0022 a0001c0003t0019 a0004c0016t0022	a0001c0003t0019g0201 a0001c0003t0019g0233 a0004c0016t0022g0007 a0001c0003t0019g0201 a0001c0003t0019g0233 a0004c0016t0022g0007	3	218	0.0138	48	c.829 others(65): Show c.829-5075_829-5074insTGTGAGTGAATGTGAGTGAACGTGTATA TGACTGAGAGCGTGTGTGTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232900477	C C	CGCTCTCA others(41): Show CGCTCTCACAGTCACTCATACACGTTCACTCACATTCACTTAGACACAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(21): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG02486.hp1 HG02647.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG04115.hp1 NA18522.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0002c0018	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025 a0001c0003t0005 a0001c0003t0019 a0001c0005t0001 a0001c0013t0001 a0002c0018t0002	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0006g0112 others(21): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0008g0109 a0001c0001t0008g0183 a0001c0001t0008g0235 a0001c0001t0008g0304 a0001c0001t0014g0203 a0001c0001t0014g0205 a0001c0001t0015g0182 a0001c0001t0015g0192 a0001c0001t0015g0193 a0001c0001t0015g0311 a0001c0001t0016g0314 a0001c0001t0025g0009 a0001c0003t0005g0108 a0001c0003t0019g0201 a0001c0003t0019g0233 a0001c0005t0001g0180 a0001c0013t0001g0022 a0001c0013t0001g0190 a0001c0013t0001g0331 a0002c0018t0002g0358	24	360	0.0667	48	c.829 others(65): Show c.829-5562_829-5561insATGTGTCTAAGTGAATGTGAGTGAACGT GTATGAGTGACTGTGAGAGC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995078	A A	ACAGTATG others(41): Show ACAGTATGTATACTGTGTACAGAATGTATACTGTGTACAGAATGTATAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp1 HG02109.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0310 a0001c0001t0015g0311 a0001c0001t0008g0310 a0001c0001t0015g0311	2	349	0.0057	48	c.-75 others(67): Show c.-75+17989_-75+17990insGTATACATTCTGTACACAGTATACAT TCTGTACACAGTATACATACTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(41): Show CTGTATATATACACTATGCAGTATGTGTACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03834.hp2 HG03239.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0001 a0001c0002t0003 a0001c0005t0001	a0001c0002t0003g0194 a0001c0005t0001g0094 a0001c0002t0003g0194 a0001c0005t0001g0094	2	119	0.0168	48	c.-75 others(67): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTACACA TACTGCATAGTGTATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995550	C C	CTATATAT others(41): Show CTATATATATACAGTATGTATACTATATATATACAGTATGTATACTATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0158 a0001c0005t0006g0158	1	264	0.0038	48	c.-75 others(67): Show c.-75+17517_-75+17518insTATAGTATACATACTGTATATATATA GTATACATACTGTATATATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATATATAT others(41): Show ATATATATATACAGTATGTATACTGTATATATATACAGTATGTATACTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03704.hp2 HG01099.hp2 HG03704.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0007 a0002c0006t0006 a0002c0006t0007	a0002c0006t0006g0056 a0002c0006t0007g0043 a0002c0006t0006g0056 a0002c0006t0007g0043	2	162	0.0123	48	c.-75 others(67): Show c.-75+17495_-75+17496insCAGTATACATACTGTATATATATACA GTATACATACTGTATATATATA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159578	T T	TATATATG others(41): Show TATATATGCATATATATGCATATATATGCATATATATGCATATATATGC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	276	0.0036	48	c.-1+ others(63): Show c.-1+1141_-1+1142insGCATATATATGCATATATATGCATATATAT GCATATATATGCATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NIPBL_chr5_36871769_37071413	36952053	T T	TGTGTGTG others(41): Show TGTGTGTGCGCGCGCGCGCGCGCGCGCGCGCGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	124	0.0081	48	c.-79 others(65): Show c.-79-1564_-79-1563insTGTGTGCGCGCGCGCGCGCGCGCGCGCG CGTGTGTGTGTGTGTGCGCG	NIPBL	ENSG00000164190.19	transcript	ENST00000282516.13	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr5	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	C C	CCTTCTTC others(41): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA19079.hp1 HG01358.hp1 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0004 a0001c0002t0004g0005	2	375	0.0053	48	c.-18 others(59): Show c.-1884_-1883insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1726		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708489	T T	TTCTTCTT others(41): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	416	0.0024	48	c.-18 others(59): Show c.-1892_-1891insGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGA	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1734		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(41): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG00642.hp1 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0014 a0001c0002t0004g0004 a0001c0002t0004g0014	2	256	0.0078	48	c.-19 others(59): Show c.-1977_-1976insGAGGAGGAGGAGGAGGAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1819		chr8	TogoVar
NKX2-6_chr8_23696740_23711756	23708574	T T	TCTTCTTC others(41): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 NA18949.hp2 NA18981.hp2 HG04204.hp1 NA18949.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0025 a0001c0002t0004g0004 a0001c0002t0004g0025	3	257	0.0117	48	c.-19 others(59): Show c.-1977_-1976insGAGGAGGAGGAGGAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG	NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding		1819		chr8	TogoVar
NLRP13_chr19_55890945_55937336	55930874	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp1 NA20905.hp2 HG02258.hp2 HG03098.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0001 a0001c0002t0001 a0003c0006t0001	a0001c0002t0001g0252 a0001c0002t0001g0280 a0003c0006t0001g0367 a0001c0002t0001g0252 a0001c0002t0001g0280 a0003c0006t0001g0367	3	313	0.0096	48	c.319 others(65): Show c.319+1118_319+1119insTATATATATATATATATATATATATATA TATATATATATATATATAAA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NMBR_chr6_142069484_142152122	142125421	C C	CCATATAC others(41): Show CCATATACACATATACATGTGCATGCATATACACATATACATGTGCATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02129.hp1 HG02572.hp1 others(10): Show HG01433.hp1 HG02129.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp2 HG03710.hp1 HG03710.hp2 NA18989.hp2 NA19086.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0005 a0001c0001 a0001c0008 a0005c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0008t0007 a0005c0005t0007	a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0007g0039 others(10): Show a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0045 a0001c0001t0007g0047 a0001c0001t0007g0051 a0001c0001t0008g0038 a0001c0001t0016g0037 a0001c0008t0007g0044 a0005c0005t0007g0046	13	231	0.0563	48	c.-66 others(69): Show c.-664+21575_-664+21622dupCATGCACATGTATATGTGTATATG CATGCACATGTATATGTGTATATG	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3			chr6	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(41): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	184	0.0054	48	c.48 others(59): Show c.4818_*4819insAAAAAAAAAAATATATATATATATATATATATAT ATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGACGGAGGAGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0001 a0009c0031t0001	a0009c0031t0001g0130 a0009c0031t0001g0130	1	346	0.0029	48	c.-17 others(59): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA GACGGAGGAGACGG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1376		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183364655	A A	ATTTCTTT others(41): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	139	0.0072	48	c.85+ others(65): Show c.85+53527_85+53528insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139580236	T T	TCTCAGCT others(41): Show TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01496.hp2 others(11): Show HG01175.hp1 HG01243.hp2 HG01496.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 others(10): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0194 a0001c0002t0002g0001 a0001c0002t0002g0042 a0001c0002t0002g0043	14	320	0.0438	48	c.110 others(65): Show c.110-1182_110-1181insGCAGGAGAATTGCTTGAACCCAGGAGGT GGAGGTTGCAGTGAGCTGAG	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NOB1_chr16_69736871_69759926	69738632	A A	ATGTATGT others(41): Show ATGTATGTATGTATGTATGTATGTATGTATGTATGTAAGAGTCTCGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	443	0.0023	48	c.36 others(59): Show c.3699_*3700insCAGCGAGACTCTTACATACATACATACATACATA CATACATACATACA	NOB1	ENSG00000141101.13	transcript	ENST00000268802.10	protein_coding		3238		chr16	TogoVar
NOC2L_chr1_939203_964256	939398	G G	GCCTCCCC others(41): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02647.hp1 others(6): Show HG01192.hp1 HG01891.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03486.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0023t0004 a0001c0001t0001 a0001c0002t0001 a0001c0023t0004	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0002t0001g0154 a0001c0023t0004g0068	9	384	0.0234	48	c.52 others(59): Show c.5248_*5295dupTGATGAGGGGGATCATGCCAGGGTGGGTCCTCAC CGTGGCTGGGGAGG	NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding		4804		chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	25	0.0400	48	c.177 others(67): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0149 a0001c0003t0003g0149	1	96	0.0104	48	c.178 others(67): Show c.178-25798_178-25797insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAAGAGAGGAGAGAG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264469	C C	CTCTCCTC others(41): Show CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG03209.hp1 others(1): Show HG02055.hp1 HG02896.hp2 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0011 a0001c0003t0010 a0001c0004t0003 others(1): Show a0001c0001t0011 a0001c0003t0010 a0001c0004t0003 a0001c0005t0007	a0001c0001t0011g0003 a0001c0003t0010g0078 a0001c0004t0003g0130 others(1): Show a0001c0001t0011g0003 a0001c0003t0010g0078 a0001c0004t0003g0130 a0001c0005t0007g0073	4	14	0.2857	48	c.178 others(67): Show c.178-22875_178-22874insTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCTCCCCTCCCCTGT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535545	C C	CGGGGGCA others(41): Show CGGGGGCAATGGGTGCAGGGTAGGCGGGGAGCACTCAGGATCCCTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0023 a0005c0050t0023	a0005c0050t0023g0134 a0005c0050t0023g0134	1	256	0.0039	48	c.140 others(65): Show c.140+8478_140+8479insTGGGAGGGATCCTGAGTGCTCCCCGCCT ACCCTGCACCCATTGCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

Search by Variant

Search

Search Results