Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
NCOA6_chr20_34709774_34830651	34751376	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03017.hp2 NA19086.hp2 HG00280.hp1 HG03017.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0048	3	290	0.0103	33	c.167 others(50): Show c.1676-858_1676-857insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		NCOA6	ENSG00000198646.14	transcript	ENST00000359003.7	protein_coding	8/14						chr20	TogoVar
NCOR1_chr17_16024157_16220534	16219580	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	282	0.0036	33	c.-42 others(44): Show c.-4290_-4289insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding					4047		chr17	TogoVar
NCR2_chr6_41330608_41355889	41353385	G G	GAGCTCCG others(26): Show GAGCTCCGGCCACACCGTGGGGACCGGAGAGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	438	0.0023	33	c.25 others(44): Show c.2521_*2522insAGCTCCGGCCACACCGTGGGGACCGGAGAGGCA		NCR2	ENSG00000096264.14	transcript	ENST00000373089.10	protein_coding					2497		chr6	TogoVar
NCS1_chr9_130167404_130242303	130221938	A A	ATATATAA others(26): Show ATATATAAATATATATACATAAATATAAATTATG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp1 HG01993.hp1 others(4): Show HG01069.hp1 HG01884.hp1 HG01993.hp1 HG02965.hp2 HG03704.hp2 NA19000.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0030 a0001c0001t0121 others(4): Show a0001c0001t0019 a0001c0001t0030 a0001c0001t0121 a0001c0001t0146 a0001c0001t0154 a0001c0001t0188 a0001c0001t0197	a0001c0001t0019g0080 a0001c0001t0030g0176 a0001c0001t0121g0076 others(4): Show a0001c0001t0019g0080 a0001c0001t0030g0176 a0001c0001t0121g0076 a0001c0001t0146g0333 a0001c0001t0154g0340 a0001c0001t0188g0287 a0001c0001t0197g0260	7	348	0.0201	33	c.308 others(48): Show c.308-642_308-610dupATAAATATATATACATAAATATAAATTATG TAT		NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 HG01255.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0065 a0001c0001t0002g0069	2	196	0.0102	33	c.594 others(48): Show c.594+337_594+338insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17						chr1	TogoVar
NDC1_chr1_53760478_53843296	53825460	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	196	0.0051	33	c.594 others(48): Show c.594+337_594+338insCTTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		NDC1	ENSG00000058804.12	transcript	ENST00000371429.4	protein_coding	5/17						chr1	TogoVar
NDE1_chr16_15645245_15731353	15712882	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 NA18940.hp1 others(1): Show HG00099.hp2 HG00140.hp1 NA18940.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0257 a0001c0001t0002g0228 a0001c0001t0002g0265 others(1): Show a0001c0001t0001g0257 a0001c0001t0002g0228 a0001c0001t0002g0265 a0001c0001t0002g0335	4	367	0.0109	33	c.948 others(52): Show c.948-11296_948-11295insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		NDE1	ENSG00000072864.16	transcript	ENST00000396354.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
NDE1_chr16_15645245_15731353	15721762	G G	GCTATGGG others(26): Show GCTATGGGAGTAATTTATATAATCATCTGGCGTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	367	0.0027	33	c.948 others(50): Show c.948-2426_948-2394dupATGGGAGTAATTTATATAATCATCTGGC GTTCT		NDE1	ENSG00000072864.16	transcript	ENST00000396354.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
NDUFA11_chr19_5889675_5908790	5907610	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	33	c.-39 others(44): Show c.-3903_-3902insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		NDUFA11	ENSG00000174886.14	transcript	ENST00000308961.5	protein_coding					3821		chr19	TogoVar
NDUFAB1_chr16_23576014_23601316	23584255	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA19011.hp2 NA19068.hp1 NA18948.hp2 NA19011.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0209 a0001c0001t0001g0236 a0001c0001t0001g0125 a0001c0001t0001g0209 a0001c0001t0001g0236	3	360	0.0083	33	c.379 others(50): Show c.379+1080_379+1081insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		NDUFAB1	ENSG00000004779.10	transcript	ENST00000007516.8	protein_coding	3/4						chr16	TogoVar
NDUFAF2_chr5_60940205_61158026	61136005	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	266	0.0038	33	c.259 others(52): Show c.259-16699_259-16698insATATATATATATATATATATATATAT ATATATA		NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding	3/3						chr5	TogoVar
NDUFAF8_chr17_81234318_81246310	81243790	G G	GCTGAGTG others(26): Show GCTGAGTGGTGCCCCTGGCCCCACAGCCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	288	0.0035	33	c.27 others(44): Show c.2774_*2775insCTGAGTGGTGCCCCTGGCCCCACAGCCCCCTCC		NDUFAF8	ENSG00000224877.4	transcript	ENST00000431388.3	protein_coding					2481		chr17	TogoVar
NDUFC2_chr11_78063297_78084862	78078728	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00735.hp2 others(9): Show HG00140.hp1 HG00642.hp1 HG00735.hp2 HG01099.hp1 HG03017.hp2 HG03491.hp1 HG04204.hp2 NA18968.hp2 NA18986.hp1 NA18987.hp2 NA18992.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0001g0117 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0147	12	420	0.0286	33	c.166 others(48): Show c.166+850_166+851insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		NDUFC2	ENSG00000151366.13	transcript	ENST00000281031.5	protein_coding	1/2						chr11	TogoVar
NDUFS1_chr2_206109817_206164444	206140930	A A	ATATATAT others(26): Show ATATATATATATATATACACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0039 a0001c0006t0039	a0001c0006t0039g0032 a0001c0006t0039g0032	1	336	0.0030	33	c.126 others(52): Show c.1262+1010_1262+1011insGTGTATATGTGTGTGTGTATATATAT ATATATA		NDUFS1	ENSG00000023228.15	transcript	ENST00000233190.11	protein_coding	12/18						chr2	TogoVar
NEDD1_chr12_96902257_96958780	96932457	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0073 a0001c0001t0012g0073	1	400	0.0025	33	c.490 others(50): Show c.490-2519_490-2518insTATATATATATATATATATATATATATA TATAT		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15						chr12	TogoVar
NEDD1_chr12_96902257_96958780	96932463	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01993.hp1 HG01952.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0243 a0001c0001t0001g0226 a0001c0001t0001g0243	2	400	0.0050	33	c.490 others(50): Show c.490-2512_490-2511insAAAAAAAAAAAAATATATATATATATAT ATATA		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(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03017.hp1 NA18982.hp1 others(1): Show HG01069.hp2 HG03017.hp1 NA18982.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0221 a0001c0001t0001g0244 a0001c0001t0002g0142 others(1): Show a0001c0001t0001g0221 a0001c0001t0001g0244 a0001c0001t0002g0142 a0001c0001t0003g0175	4	400	0.0100	33	c.490 others(50): Show c.490-2512_490-2511insAAAAAAAAAAATATATATATATATATAT ATATA		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(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18747.hp2 HG01175.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0264 a0001c0001t0001g0229 a0001c0001t0001g0264	2	400	0.0050	33	c.490 others(50): Show c.490-2512_490-2511insAAAAAAAAATATATATATATATATATAT ATATA		NEDD1	ENSG00000139350.12	transcript	ENST00000266742.9	protein_coding	6/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
NELL1_chr11_20664586_21580686	20915718	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	88	0.0114	33	c.604 others(50): Show c.604-2464_604-2463insATATATATATATATATATATATATATAT ATATA		NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19						chr11	TogoVar
NELL2_chr12_44503278_44881315	44587284	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	158	0.0063	33	c.166 others(54): Show c.1663+19884_1663+19885insATATATATATATATATATATATTT TTTTTTTTT		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	15/19						chr12	TogoVar
NELL2_chr12_44503278_44881315	44797828	A A	AATTCCAT others(26): Show AATTCCATCCTAGATGGAATGATGGAATAAAACC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02559.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0062 a0002c0003t0004g0004 a0001c0001t0002g0062 a0002c0003t0004g0004	2	158	0.0127	33	c.336 others(52): Show c.336-17839_336-17807dupGGTTTTATTCCATCATTCCATCTAGG ATGGAAT		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19						chr12	TogoVar
NELL2_chr12_44503278_44881315	44797984	T T	TCATTCCA others(26): Show TCATTCCATCCTAGATGGAATGATGGAATAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02559.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0062 a0002c0003t0004g0004 a0001c0001t0002g0062 a0002c0003t0004g0004	2	158	0.0127	33	c.335 others(52): Show c.335+17969_336-17963dupCTTTTATTCCATCATTCCATCTAGGA TGGAATG		NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding	3/19						chr12	TogoVar
NEMF_chr14_49777083_49857788	49855811	T T	TATATTTA others(26): Show TATATTTATATAATATGTATAATATATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00741.hp1 HG01123.hp2 others(4): Show HG00597.hp2 HG00741.hp1 HG01123.hp2 HG02622.hp2 NA19011.hp2 NA19076.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0116 a0001c0001t0001g0145 a0001c0001t0001g0146 others(4): Show a0001c0001t0001g0116 a0001c0001t0001g0145 a0001c0001t0001g0146 a0002c0002t0005g0003 a0002c0002t0005g0004 a0002c0002t0005g0005 a0002c0002t0005g0006	7	222	0.0315	33	c.-30 others(44): Show c.-3059_-3058insTATATAAATATATTATACATATTATATAAATAT		NEMF	ENSG00000165525.18	transcript	ENST00000298310.10	protein_coding					3024		chr14	TogoVar
NEO1_chr15_73047463_73310205	73257132	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02559.hp1 HG02129.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0253 a0001c0001t0003g0264 a0001c0001t0003g0253 a0001c0001t0003g0264	2	324	0.0062	33	c.209 others(52): Show c.2093-1613_2093-1612insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	13/28					INFO_REALIGN_3_PRIME	chr15	TogoVar
NEU4_chr2_241804193_241822413	241806497	T T	TCCTCCCC others(26): Show TCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	319	0.0031	33	c.-27 others(44): Show c.-2781_-2780insCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2695		chr2	TogoVar
NEURL1B_chr5_172636263_172696540	172663054	A A	AAATAATA others(26): Show AAATAATAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01346.hp1 HG01515.hp1 others(9): Show HG00642.hp2 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02074.hp1 HG02257.hp2 HG02647.hp2 NA19055.hp2 NA19057.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0014 a0001c0001 a0001c0005 a0001c0014	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0019 a0001c0005t0004 a0001c0014t0004	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0263 a0001c0001t0005g0047 a0001c0001t0017g0262 a0001c0001t0019g0045 a0001c0005t0004g0325 a0001c0014t0004g0131	12	392	0.0306	33	c.32- others(48): Show c.32-6718_32-6717insATAATAATAATAATAATAATAATAATAATA ATA		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172663829	T T	TTTTTTTT others(26): Show TTTTTTTTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0317 a0001c0001t0003g0317	1	392	0.0026	33	c.32- others(48): Show c.32-5954_32-5953insTTTTTTATTATTATTATTATTATTATTATT ATT		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172667275	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01099.hp2 others(1): Show HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0001c0001t0001 a0002c0003t0006	a0001c0001t0001g0053 a0002c0003t0006g0007 a0002c0003t0006g0052 a0001c0001t0001g0053 a0002c0003t0006g0007 a0002c0003t0006g0052	4	392	0.0102	33	c.32- others(48): Show c.32-2489_32-2488insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
NFAT5_chr16_69560966_69709654	69688202	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19077.hp1 HG00738.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0193 a0001c0001t0010g0218 a0001c0001t0004g0193 a0001c0001t0010g0218	2	380	0.0053	33	c.177 others(52): Show c.1775-2714_1775-2713insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		NFAT5	ENSG00000102908.23	transcript	ENST00000349945.7	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
NFATC1_chr18_79390930_79534323	79395594	T T	TGCGCCCC others(26): Show TGCGCCCCCCTCCCCGGGCGCCCCCCCTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp2 HG03834.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0006 a0001c0001t0006 a0001c0004t0006	a0001c0001t0006g0100 a0001c0004t0006g0099 a0001c0001t0006g0100 a0001c0004t0006g0099	2	322	0.0062	33	c.-63 others(42): Show c.-631_-630insGCGCCCCCCTCCCCGGGCGCCCCCCCTCCCCGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding					335		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79462764	G G	GCAGTGCG others(26): Show GCAGTGCGGGTCAGGGAAGTCTTGTGCACCCACT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp2 HG02280.hp1 others(8): Show HG01255.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0008	a0001c0006 a0001c0008 a0001c0025 others(4): Show a0001c0006 a0001c0008 a0001c0025 a0001c0048 a0005c0031 a0007c0033 a0008c0052	a0001c0006t0002 a0001c0006t0048 a0001c0008t0005 others(8): Show a0001c0006t0002 a0001c0006t0048 a0001c0008t0005 a0001c0008t0012 a0001c0008t0046 a0001c0025t0002 a0001c0025t0025 a0001c0048t0005 a0005c0031t0004 a0007c0033t0026 a0008c0052t0036	a0001c0006t0002g0307 a0001c0006t0048g0049 a0001c0008t0005g0288 others(8): Show a0001c0006t0002g0307 a0001c0006t0048g0049 a0001c0008t0005g0288 a0001c0008t0012g0009 a0001c0008t0046g0284 a0001c0025t0002g0304 a0001c0025t0025g0047 a0001c0048t0005g0283 a0005c0031t0004g0011 a0007c0033t0026g0101 a0008c0052t0036g0177	11	322	0.0342	33	c.195 others(52): Show c.1959+1403_1959+1404insCGGGTCAGGGAAGTCTTGTGCACCCA CTCAGTG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525017	C C	CTACCCCT others(26): Show CTACCCCTCAGTCCTCCCCACGTCCCACCGTCGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0048 a0001c0006t0048	a0001c0006t0048g0049 a0001c0006t0048g0049	1	322	0.0031	33	c.278 others(52): Show c.2783-2501_2783-2500insTCCTCCCCACGTCCCACCGTCGTTAC CCCTCAG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525094	G G	GCCTCCCC others(26): Show GCCTCCCCACGTCCCACCGTCGTTACCCCTCAGT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01433.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0002 a0002c0003t0001 a0001c0004t0002 a0002c0003t0001	a0001c0004t0002g0300 a0001c0004t0002g0301 a0002c0003t0001g0216 a0001c0004t0002g0300 a0001c0004t0002g0301 a0002c0003t0001g0216	3	322	0.0093	33	c.278 others(52): Show c.2783-2275_2783-2243dupCCTCAGTCCTCCCCACGTCCCACCGT CGTTACC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525484	C C	CCTCAGTC others(26): Show CCTCAGTCCTCCCCACGTCCCACCGTCGTTACCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03486.hp2 HG01255.hp1 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0002 a0001c0006t0002 a0001c0004t0002 a0001c0006t0002	a0001c0004t0002g0315 a0001c0006t0002g0307 a0001c0004t0002g0315 a0001c0006t0002g0307	2	322	0.0062	33	c.278 others(52): Show c.2783-2039_2783-2038insTCCTCCCCACGTCCCACCGTCGTTAC CTCTCAG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51394717	T T	TCCCCAAG others(26): Show TCCCCAAGTCGGCCTCTGAGGTTTGGGTGCTGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02559.hp1 others(11): Show HG01884.hp2 HG02486.hp2 HG02559.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0012	a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 others(9): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0040 a0001c0002t0021 a0001c0002t0024 a0001c0003t0002 a0001c0003t0055 a0001c0005t0020 a0001c0009t0028 a0001c0012t0054	a0001c0001t0020g0070 a0001c0001t0020g0252 a0001c0001t0021g0009 others(11): Show a0001c0001t0020g0070 a0001c0001t0020g0252 a0001c0001t0021g0009 a0001c0001t0021g0240 a0001c0001t0024g0197 a0001c0001t0028g0204 a0001c0001t0040g0198 a0001c0002t0021g0254 a0001c0002t0024g0228 a0001c0003t0002g0250 a0001c0003t0055g0128 a0001c0005t0020g0150 a0001c0009t0028g0166 a0001c0012t0054g0018	14	316	0.0443	33	c.45 others(50): Show c.45-3299_*45-3267dupTTCAGCACCCAAACCTCAGAGGCCGACT TGGGG		NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	10/10						chr20	TogoVar
NFIA_chr1_61077561_61467788	61458379	T T	TTGCACCT others(26): Show TTGCACCTTTTTTAAACTAACAACTATGCATTAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0080 a0001c0001t0038g0080	1	156	0.0064	33	c.30 others(44): Show c.3060_*3061insGCACCTTTTTTAAACTAACAACTATGCATTAGT		NFIA	ENSG00000162599.18	transcript	ENST00000403491.8	protein_coding	11/11				3061	INFO_REALIGN_3_PRIME	chr1	TogoVar
NFKBIA_chr14_35396513_35409749	35402482	G G	GTCAGCTG others(26): Show GTCAGCTGGCCCAGCTGCTGCTGTATCCGGGTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0043 a0002c0007t0006g0043	1	462	0.0022	33	c.785 others(40): Show c.785_817dupGCACCCGGATACAGCAGCAGCTGGGCCAGCTGA	p.Ser others(13): Show p.Ser262_Leu272dup	NFKBIA	ENSG00000100906.12	transcript	ENST00000216797.10	protein_coding	5/6	922/1559	817/954	273/317			chr14	TogoVar
NGB_chr14_77260483_77276206	77269723	T T	TCCTCCCT others(26): Show TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	366	0.0027	33	c.90- others(46): Show c.90-398_90-397insGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG G		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269725	T T	TCCCTCCC others(26): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	366	0.0027	33	c.90- others(46): Show c.90-400_90-399insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG G		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269726	C C	CCCTCCCT others(26): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	366	0.0027	33	c.90- others(46): Show c.90-401_90-400insAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG G		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269727	T T	TCCCTCCC others(26): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	366	0.0027	33	c.90- others(46): Show c.90-402_90-401insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG G		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGEF_chr2_232873701_233018256	232906111	A A	AGGTGAGG others(26): Show AGGTGAGGGGCACCTCTGCCTGGCCGCCCCTACT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0137 a0001c0001t0013g0137	1	362	0.0028	33	c.829 others(52): Show c.829-11196_829-11195insAGTAGGGGCGGCCAGGCAGAGGTGCC CCTCACC		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232969472	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	362	0.0028	33	c.383 others(48): Show c.383+741_383+742insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	3/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232993177	A A	AATAAATA others(26): Show AATAAATATATATATTTATTTATATATATATTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG03209.hp2 others(2): Show HG01109.hp1 HG02630.hp2 HG03209.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0014 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0029 a0001c0002t0011	a0001c0001t0002g0241 a0001c0001t0014g0129 a0001c0001t0014g0130 others(2): Show a0001c0001t0002g0241 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0029g0128 a0001c0002t0011g0251	5	362	0.0138	33	c.-74 others(52): Show c.-74-18214_-74-18213insATAATATATATATAAATAAATATATA TATTTAT		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995089	A A	ATACATAC others(26): Show ATACATACTGTACATATATGTACAGTATACATAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	362	0.0028	33	c.-75 others(52): Show c.-75+17978_-75+17979insGTATGTATACTGTACATATATGTACA GTATGTA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995089	A A	ATGTATAC others(26): Show ATGTATACTGTATATATATGTACAGTATGTATAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(72): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp2 HG02300.hp1 HG02630.hp2 HG03209.hp1 HG03453.hp2 HG03492.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18960.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18995.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0011 a0002c0006 a0002c0008 a0002c0014 a0002c0015 a0003c0019 a0005c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0001t0032 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0001c0003t0002 a0001c0003t0005 a0001c0004t0003 a0001c0004t0004 a0001c0004t0014 a0001c0005t0006 a0001c0007t0001 a0001c0007t0008 a0001c0011t0001 a0002c0006t0002 a0002c0008t0004 a0002c0014t0002 a0002c0015t0007 a0003c0019t0003 a0005c0017t0003	a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0002g0166 others(72): Show a0001c0001t0001g0175 a0001c0001t0001g0185 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0213 a0001c0001t0002g0228 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0006g0177 a0001c0001t0006g0207 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0007g0184 a0001c0001t0008g0135 a0001c0001t0008g0176 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0009g0233 a0001c0001t0013g0137 a0001c0001t0014g0129 a0001c0001t0014g0130 a0001c0001t0029g0128 a0001c0001t0032g0234 a0001c0002t0003g0062 a0001c0002t0003g0127 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0163 a0001c0002t0003g0167 a0001c0002t0003g0202 a0001c0002t0011g0251 a0001c0002t0012g0200 a0001c0003t0002g0087 a0001c0003t0002g0186 a0001c0003t0005g0066 a0001c0003t0005g0169 a0001c0003t0005g0170 a0001c0003t0005g0212 a0001c0003t0005g0214 a0001c0003t0005g0217 a0001c0003t0005g0343 a0001c0003t0005g0344 a0001c0004t0003g0168 a0001c0004t0003g0205 a0001c0004t0003g0209 a0001c0004t0003g0244 a0001c0004t0004g0086 a0001c0004t0004g0174 a0001c0004t0004g0192 a0001c0004t0004g0196 a0001c0004t0004g0218 a0001c0004t0004g0219 a0001c0004t0004g0220 a0001c0004t0004g0221 a0001c0004t0004g0223 a0001c0004t0004g0243 a0001c0004t0014g0208 a0001c0005t0006g0164 a0001c0007t0001g0155 a0001c0007t0001g0180 a0001c0007t0001g0183 a0001c0007t0001g0199 a0001c0007t0001g0204 a0001c0007t0001g0222 a0001c0007t0008g0070 a0001c0011t0001g0182 a0002c0006t0002g0354 a0002c0008t0004g0357 a0002c0014t0002g0355 a0002c0015t0007g0353 a0003c0019t0003g0191 a0005c0017t0003g0260	75	362	0.2072	33	c.-75 others(52): Show c.-75+17978_-75+17979insGTATACATACTGTACATATATATACA GTATACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995094	T T	TACTGTAT others(26): Show TACTGTATATATATGTACAGTATACATACTGTAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02129.hp1 HG02155.hp1 others(13): Show HG00558.hp2 HG02129.hp1 HG02155.hp1 HG02523.hp1 NA18951.hp1 NA18955.hp2 NA18965.hp1 NA18984.hp1 NA18986.hp1 NA19007.hp1 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19079.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0002 a0001c0001t0009 a0001c0001t0026 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0026 a0001c0002t0003 a0001c0003t0005 a0001c0005t0009 a0001c0007t0001	a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0266 others(13): Show a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0356 a0001c0001t0009g0270 a0001c0001t0026g0261 a0001c0002t0003g0262 a0001c0002t0003g0268 a0001c0003t0005g0267 a0001c0005t0009g0178 a0001c0005t0009g0259 a0001c0007t0001g0273	16	362	0.0442	33	c.-75 others(52): Show c.-75+17973_-75+17974insGTACAGTATGTATACTGTACATATAT ATACAGT		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995125	G G	GTATACTG others(26): Show GTATACTGTATATATGTACAGTATGTACACTGTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp2 others(6): Show HG01069.hp2 HG01071.hp1 HG01109.hp2 HG01256.hp1 HG01258.hp2 HG01361.hp1 HG01496.hp2 HG03688.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0012 a0001c0003t0005 a0001c0004t0004	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0001 others(5): Show a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0001 a0001c0001t0002g0198 a0001c0002t0012g0063 a0001c0003t0005g0154 a0001c0003t0005g0197 a0001c0004t0004g0210	9	362	0.0249	33	c.-75 others(52): Show c.-75+17942_-75+17943insTACAGTGTACATACTGTACATATATA CAGTATA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995365	G G	GCATGTAT others(26): Show GCATGTATACTGTATATATACACAGTATGTATAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0136 a0001c0003t0005g0136	1	362	0.0028	33	c.-75 others(52): Show c.-75+17702_-75+17703insGTATACATACTGTGTATATATACAGT ATACATG		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NGEF_chr2_232873701_233018256	232995746	A A	AATATGTA others(26): Show AATATGTATATGTATTATATGTATTCATATACAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0359 a0002c0018t0002g0359	1	362	0.0028	33	c.-75 others(52): Show c.-75+17289_-75+17321dupATGTATATGAATACATATAATACATA TACATAT		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar

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Search Results (Total: 4928 hits)