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
MYT1_chr20_64159452_64247253	64236193	C C	CGTGGGTG others(18): Show CGTGGGTGGGTGACCCTGGGCTGGCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0037 a0001c0004t0004g0037	1	117	0.0085	25	c.289 others(42): Show c.2898-358_2898-357insGTGGGTGACCCTGGGCTGGCTGTGG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64236193	C C	CGTGGTGG others(18): Show CGTGGTGGGTGACCCCTGGGCTGGCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0050 a0001c0004t0004g0050	1	117	0.0085	25	c.289 others(42): Show c.2898-348_2898-347insCTGGGCTGGCTGTGGTGGGTGACCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64238619	G G	GCCCTCCC others(18): Show GCCCTCCCGGCGGAGCCATCCCCGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00735.hp2 others(40): Show HG00099.hp1 HG00280.hp1 HG00735.hp2 HG01074.hp2 HG01106.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02040.hp2 HG02129.hp1 HG02486.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18959.hp1 NA18964.hp2 NA18999.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0017 a0002c0008	a0001c0001t0013 a0001c0002t0002 a0001c0002t0018 others(6): Show a0001c0001t0013 a0001c0002t0002 a0001c0002t0018 a0001c0003t0007 a0001c0003t0019 a0001c0003t0021 a0001c0003t0022 a0001c0017t0002 a0002c0008t0020	a0001c0001t0013g0014 a0001c0001t0013g0026 a0001c0001t0013g0155 others(37): Show a0001c0001t0013g0014 a0001c0001t0013g0026 a0001c0001t0013g0155 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0071 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0113 a0001c0002t0002g0123 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0002g0181 a0001c0002t0002g0200 a0001c0002t0018g0040 a0001c0003t0007g0074 a0001c0003t0007g0149 a0001c0003t0007g0166 a0001c0003t0007g0184 a0001c0003t0007g0197 a0001c0003t0007g0205 a0001c0003t0007g0213 a0001c0003t0019g0178 a0001c0003t0021g0146 a0001c0003t0022g0115 a0001c0017t0002g0080 a0002c0008t0020g0132	43	222	0.1937	25	c.309 others(44): Show c.3094-1134_3094-1110dupCGGCGGAGCCATCCCCGTCCCCTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18747.hp1 HG01258.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0230 a0001c0001t0001g0198 a0001c0001t0001g0230	2	93	0.0215	25	c.163 others(42): Show c.163-1210_163-1186dupTTTTTTTTTTTTTTTTTTTTTTTTT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57687270	A A	AGTGCTGT others(18): Show AGTGCTGTAAATTATACAATATAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	350	0.0029	25	c.27 others(36): Show c.2772_*2773insGTGCTGTAAATTATACAATATAATG	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		1907		chr15	TogoVar
N4BP2L2_chr13_32505292_32543795	32540970	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02071.hp1 HG03654.hp2 others(1): Show HG01891.hp2 HG02071.hp1 HG03654.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0058 a0001c0001t0003 a0001c0001t0004 a0001c0001t0058	a0001c0001t0003g0186 a0001c0001t0004g0005 a0001c0001t0004g0052 others(1): Show a0001c0001t0003g0186 a0001c0001t0004g0005 a0001c0001t0004g0052 a0001c0001t0058g0044	4	106	0.0377	25	c.-23 others(36): Show c.-2354_-2353insAAAAAAAAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding		2176		chr13	TogoVar
N4BP2_chr4_40051850_40163252	40134931	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02040.hp1 HG02257.hp2 others(9): Show HG01109.hp2 HG02040.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03540.hp2 NA19043.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 others(5): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0002c0002t0027 a0006c0006t0029 a0006c0006t0036 a0006c0006t0050 a0006c0006t0060	a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0008g0243 others(9): Show a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0008g0243 a0001c0001t0013g0242 a0002c0002t0027g0133 a0006c0006t0029g0162 a0006c0006t0029g0163 a0006c0006t0029g0164 a0006c0006t0036g0160 a0006c0006t0036g0161 a0006c0006t0050g0166 a0006c0006t0060g0165	12	73	0.1644	25	c.464 others(44): Show c.4647-1989_4647-1988insATTTTATTTTATTTTATTTTATTTT	N4BP2	ENSG00000078177.15	transcript	ENST00000261435.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139314993	C C	CAGTTTAG others(18): Show CAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG04184.hp1 NA18943.hp2 HG02080.hp1 HG04184.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0145 a0001c0001t0003g0153 a0001c0001t0018g0150 a0001c0001t0003g0145 a0001c0001t0003g0153 a0001c0001t0018g0150	3	262	0.0115	25	c.54+ others(42): Show c.54+13166_54+13167insTAGTTTAGTTTAGTTTAGTTTAGTT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139314998	C C	CAGTTTAG others(18): Show CAGTTTAGTTTAGTTTAGTTTAGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp2 HG01106.hp1 others(20): Show HG00140.hp2 HG00738.hp2 HG01106.hp1 HG01496.hp2 HG01993.hp2 HG02071.hp2 HG02165.hp2 HG02602.hp2 HG03139.hp1 HG03654.hp2 HG03834.hp2 NA18944.hp2 NA18954.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp2 NA19004.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0019	a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0003g0004 others(19): Show a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0003g0004 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0114 a0001c0001t0003g0119 a0001c0001t0003g0126 a0001c0001t0003g0134 a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0154 a0001c0001t0003g0160 a0001c0001t0003g0182 a0001c0001t0010g0162 a0001c0001t0010g0164 a0001c0001t0013g0113 a0001c0001t0014g0052 a0001c0001t0017g0139 a0001c0001t0019g0118	23	141	0.1631	25	c.54+ others(42): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGTTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(18): Show TTTAGTTTAGTTTAGGTTAGGTTAGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04204.hp2 HG03834.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0278 a0001c0001t0001g0280	2	210	0.0095	25	c.54+ others(42): Show c.54+13179_54+13180insTTTAGTTTAGGTTAGGTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(18): Show TTTAGTTTAGTTTAGTTTAGGTTAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18968.hp1 NA18985.hp1 HG00423.hp1 NA18968.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0286	3	211	0.0142	25	c.54+ others(42): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGGTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315006	T T	TTTAGTTT others(18): Show TTTAGTTTAGTTTAGTTTAGTTTAGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0295 a0001c0001t0009g0295	1	209	0.0048	25	c.54+ others(42): Show c.54+13179_54+13180insTTTAGTTTAGTTTAGTTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315051	G G	GTTAGGTT others(18): Show GTTAGGTTAGGTTAGGTTAGTTTAGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	134	0.0075	25	c.54+ others(42): Show c.54+13224_54+13225insGTTAGGTTAGGTTAGTTTAGTTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA15_chr4_139296505_139396384	139315051	G G	GTTAGTTT others(18): Show GTTAGTTTAGTTTAGTTTAGTTTAGT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	134	0.0075	25	c.54+ others(42): Show c.54+13223_54+13247dupAGTTTAGTTTAGTTTAGTTTAGTTT	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAA16_chr13_41306267_41382030	41353113	T T	TCAAAACA others(18): Show TCAAAACAAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	10	0.1000	25	c.101 others(44): Show c.1015-2028_1015-2004dupAAACAAAACAAAACAAAACAAAACA	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAA16_chr13_41306267_41382030	41353113	T T	TCAAAACA others(18): Show TCAAAACAAAATAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	10	0.1000	25	c.101 others(44): Show c.1015-2021_1015-2020insTAAAACAAAACAAAACAAAACAAAA	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
NAAA_chr4_75908660_75946013	75913058	A A	AGACACTC others(18): Show AGACACTCCAAAACTGCCTTCCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG03471.hp1 HG02258.hp2 HG03098.hp2 HG03471.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0002 a0005c0010t0002 a0001c0001t0002 a0005c0010t0002	a0001c0001t0002g0195 a0005c0010t0002g0038 a0001c0001t0002g0195 a0005c0010t0002g0038	3	398	0.0075	25	c.13 others(36): Show c.1316_*1317insAAAAGGAAGGCAGTTTTGGAGTGTC	NAAA	ENSG00000138744.16	transcript	ENST00000286733.9	protein_coding		601		chr4	TogoVar
NAALAD2_chr11_90129663_90197894	90154884	T T	TATATGTA others(18): Show TATATGTATATATTATATACGTATAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18973.hp1 NA18944.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0073 a0001c0001t0003g0067 a0001c0001t0002g0073 a0001c0001t0003g0067	2	360	0.0056	25	c.796 others(42): Show c.796+2454_796+2478dupTGTATATATTATATACGTATACATA	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL1_chr11_65039818_65063553	65054979	C C	CCATGGAA others(18): Show CCATGGAAGCTGCATACAGTGAAACA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0105 a0011c0012t0001g0105	1	370	0.0027	25	c.604 others(40): Show c.604-242_604-241insTGTTTCACTGTATGCAGCTTCCATG	NAALADL1	ENSG00000168060.16	transcript	ENST00000358658.8	protein_coding	4/17			chr11	TogoVar
NAALADL2_chr3_174854334_175815548	174953294	G G	GCCTCCCC others(18): Show GCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0037 a0013c0023t0001g0037	1	9	0.1111	25	c.43+ others(42): Show c.43+93875_43+93899dupCCTCCCCTCCCCTCCCCTCCCCTCC	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175639318	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	20	0.0500	25	c.189 others(46): Show c.1896+11952_1896+11953insTTTTTTTTTTTTTTTTTTTTTTTT T	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175800346	C C	CTTAATAC others(18): Show CTTAATACAAACTATAAACCTGAATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01109.hp1 others(14): Show HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG02258.hp1 HG02300.hp2 HG02615.hp1 HG02717.hp1 HG02922.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp1 NA19043.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0012	a0001c0001 a0001c0013 a0002c0007 others(7): Show a0001c0001 a0001c0013 a0002c0007 a0003c0004 a0003c0005 a0004c0002 a0004c0008 a0006c0009 a0006c0010 a0012c0017	a0001c0001t0006 a0001c0001t0031 a0001c0001t0033 others(14): Show a0001c0001t0006 a0001c0001t0031 a0001c0001t0033 a0001c0013t0006 a0002c0007t0001 a0002c0007t0034 a0003c0004t0029 a0003c0004t0032 a0003c0005t0009 a0003c0005t0028 a0004c0002t0009 a0004c0002t0030 a0004c0008t0011 a0006c0009t0010 a0006c0009t0011 a0006c0010t0010 a0012c0017t0006	a0001c0001t0006g0026 a0001c0001t0031g0027 a0001c0001t0033g0038 others(14): Show a0001c0001t0006g0026 a0001c0001t0031g0027 a0001c0001t0033g0038 a0001c0013t0006g0021 a0002c0007t0001g0064 a0002c0007t0034g0063 a0003c0004t0029g0022 a0003c0004t0032g0047 a0003c0005t0009g0007 a0003c0005t0028g0050 a0004c0002t0009g0006 a0004c0002t0030g0055 a0004c0008t0011g0036 a0006c0009t0010g0061 a0006c0009t0011g0011 a0006c0010t0010g0054 a0012c0017t0006g0025	17	64	0.2656	25	c.219 others(44): Show c.2190-2658_2190-2634dupTTAATACAAACTATAAACCTGAATT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136062114	A A	AGACAGGA others(18): Show AGACAGGACAGGACAGGACAGGACAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0332 a0001c0004t0017g0332	1	52	0.0192	25	c.-59 others(44): Show c.-59-11559_-59-11535dupCTGTCCTGTCCTGTCCTGTCCTGTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	1/5			chr9	TogoVar
NALF1_chr13_107158510_107872496	107438827	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01993.hp2 HG01943.hp1 HG01993.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0016 a0001c0001t0001 a0003c0004t0016	a0001c0001t0001g0063 a0003c0004t0016g0113 a0001c0001t0001g0063 a0003c0004t0016g0113	2	26	0.0769	25	c.916 others(46): Show c.916-228073_916-228072insTTTTTTTTTTTTTTTTTTTTTTTT T	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107467321	C C	CTTTCATT others(18): Show CTTTCATTACTAAGAGACTAAGGTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(30): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01358.hp1 HG01943.hp1 HG01993.hp2 HG02132.hp2 HG02135.hp1 HG02615.hp2 HG02922.hp2 HG03130.hp2 HG03139.hp1 HG03491.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18967.hp1 NA18967.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0040 a0001c0001t0042 a0001c0001t0047 a0001c0001t0048 a0001c0001t0054 a0001c0001t0057 a0001c0001t0068 a0001c0001t0091 a0001c0001t0095 a0001c0002t0049 a0001c0002t0067 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0008 a0003c0004t0016	a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0063 others(30): Show a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0002g0053 a0001c0001t0006g0112 a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0008g0109 a0001c0001t0009g0012 a0001c0001t0010g0032 a0001c0001t0015g0095 a0001c0001t0019g0003 a0001c0001t0020g0015 a0001c0001t0022g0011 a0001c0001t0023g0008 a0001c0001t0027g0004 a0001c0001t0040g0050 a0001c0001t0042g0044 a0001c0001t0047g0069 a0001c0001t0048g0056 a0001c0001t0054g0045 a0001c0001t0057g0042 a0001c0001t0068g0030 a0001c0001t0091g0115 a0001c0001t0095g0127 a0001c0002t0049g0074 a0001c0002t0067g0075 a0002c0003t0003g0123 a0002c0003t0006g0118 a0002c0003t0006g0121 a0002c0003t0007g0126 a0002c0003t0008g0122 a0003c0004t0016g0113	33	128	0.2578	25	c.916 others(46): Show c.916-256591_916-256567dupTAACCTTAGTCTCTTAGTAATGAA A	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107586635	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0021 a0001c0002t0036g0021	1	2	0.5000	25	c.915 others(46): Show c.915+279046_915+279047insAAAAAAAAAAAAAAAAAAAAAAAA A	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NALF1_chr13_107158510_107872496	107633771	T T	TTATATAT others(18): Show TTATATATGGATATATATATATTCTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0026 a0001c0001t0073g0026	1	128	0.0078	25	c.915 others(46): Show c.915+231886_915+231910dupTAGAATATATATATATCCATATAT A	NALF1	ENSG00000204442.4	transcript	ENST00000375915.4	protein_coding	1/2			chr13	TogoVar
NAMPT_chr7_106243298_106289983	106267840	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01934.hp1 HG02129.hp2 others(1): Show HG01433.hp2 HG01934.hp1 HG02129.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0023 a0001c0001t0001 a0001c0001t0021 a0001c0001t0023	a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0021g0148 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0179 a0001c0001t0021g0148 a0001c0001t0023g0149	4	36	0.1111	25	c.743 others(40): Show c.743+599_743+623dupTTTTTTTTTTTTTTTTTTTTTTTTT	NAMPT	ENSG00000105835.13	transcript	ENST00000222553.8	protein_coding	6/10			chr7	TogoVar
NANOGNB_chr12_7760216_7779121	7765569	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	318	0.0031	25	c.102 others(40): Show c.102+202_102+203insAAAAAAAAAAAAAAAAAAAAAAAAA	NANOGNB	ENSG00000205857.2	transcript	ENST00000382119.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
NANOG_chr12_7784402_7804146	7800831	A A	AAAATTTA others(18): Show AAAATTTAAATTAAAAATTAAATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	432	0.0023	25	c.57 others(36): Show c.5736_*5737insAAATTTAAATTAAAAATTAAATTTT	NANOG	ENSG00000111704.11	transcript	ENST00000229307.9	protein_coding		1686		chr12	TogoVar
NAPB_chr20_23369522_23426488	23415240	T T	TAGAATGG others(18): Show TAGAATGGGGTACCTCGAACTATGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0096 a0001c0001t0018g0096	1	392	0.0026	25	c.98+ others(40): Show c.98+6064_98+6065insTCCATAGTTCGAGGTACCCCATTCT	NAPB	ENSG00000125814.17	transcript	ENST00000377026.4	protein_coding	1/10			chr20	TogoVar
NARF_chr17_82453741_82495537	82471791	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0168	1	114	0.0088	25	c.386 others(40): Show c.386-757_386-756insAAAAAAAAAAAAAAAAAAAAAAAAA	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
NARF_chr17_82453741_82495537	82494093	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	333	0.0030	25	c.59 others(36): Show c.5936_*5937insGAGAGAGAGAGAGAGAGAGAGAGAG	NARF	ENSG00000141562.19	transcript	ENST00000309794.16	protein_coding		3557		chr17	TogoVar
NARS2_chr11_78430968_78579864	78468310	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0286 a0001c0004t0004g0286	1	145	0.0069	25	c.102 others(42): Show c.1026+936_1026+937insTTTTTTTTTTTTTTTTTTTTTTTTT	NARS2	ENSG00000137513.11	transcript	ENST00000281038.10	protein_coding	10/13			chr11	TogoVar
NAV1_chr1_201534127_201831969	201642525	T T	TTTTTCTT others(18): Show TTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01496.hp1 HG01123.hp2 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0117 a0001c0001t0010g0088 a0001c0001t0002g0117 a0001c0001t0010g0088	2	57	0.0351	25	c.827 others(42): Show c.827-6106_827-6105insTCTTTCTTTCTTTCTTTCTTTCTTT	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201676581	C C	CAGTGGTC others(18): Show CAGTGGTCCAGGCTGGGGTTCCCGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0039 a0003c0004t0039	a0003c0004t0039g0142 a0003c0004t0039g0142	1	208	0.0048	25	c.161 others(46): Show c.1618+27159_1618+27183dupTGGTCCAGGCTGGGGTTCCCGGTA G	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV1_chr1_201534127_201831969	201802136	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02602.hp2 HG04184.hp1 others(1): Show HG01517.hp1 HG02602.hp2 HG04184.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0064 a0001c0001t0003 a0001c0001t0064	a0001c0001t0003g0002 a0001c0001t0003g0037 a0001c0001t0003g0108 others(1): Show a0001c0001t0003g0002 a0001c0001t0003g0037 a0001c0001t0003g0108 a0001c0001t0064g0162	4	130	0.0308	25	c.437 others(44): Show c.4379-1438_4379-1437insAAAAAAAAAAAAAAAAAAAAAAAAA	NAV1	ENSG00000134369.16	transcript	ENST00000685211.1	protein_coding	19/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
NAV2_chr11_19707837_20126601	19877472	T T	TTTTTTTT others(18): Show TTTTTTTTTTTTTCTTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00741.hp2 others(51): Show HG00140.hp1 HG00558.hp1 HG00741.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01952.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp2 NA19030.hp1 NA19043.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0019 a0021	a0001c0003 a0001c0007 a0001c0008 others(47): Show a0001c0003 a0001c0007 a0001c0008 a0001c0018 a0001c0019 a0001c0028 a0001c0029 a0001c0031 a0001c0033 a0001c0034 a0001c0036 a0001c0044 a0001c0046 a0001c0048 a0001c0050 a0001c0052 a0001c0053 a0001c0054 a0001c0058 a0001c0059 a0001c0070 a0001c0071 a0001c0072 a0001c0073 a0001c0076 a0001c0077 a0001c0079 a0001c0080 a0001c0086 a0002c0002 a0002c0116 a0002c0120 a0003c0106 a0004c0005 a0004c0006 a0004c0040 a0004c0042 a0004c0043 a0004c0062 a0004c0063 a0004c0088 a0005c0026 a0005c0035 a0005c0051 a0005c0143 a0006c0022 a0006c0023 a0007c0111 a0019c0057 a0021c0025	a0001c0003t0011 a0001c0003t0023 a0001c0003t0026 others(51): Show a0001c0003t0011 a0001c0003t0023 a0001c0003t0026 a0001c0007t0007 a0001c0007t0010 a0001c0008t0016 a0001c0008t0021 a0001c0018t0048 a0001c0019t0049 a0001c0028t0030 a0001c0029t0006 a0001c0031t0001 a0001c0033t0004 a0001c0034t0041 a0001c0036t0046 a0001c0044t0003 a0001c0046t0014 a0001c0048t0036 a0001c0050t0035 a0001c0052t0007 a0001c0053t0010 a0001c0054t0005 a0001c0058t0009 a0001c0059t0001 a0001c0070t0022 a0001c0071t0007 a0001c0072t0001 a0001c0073t0044 a0001c0076t0015 a0001c0077t0009 a0001c0079t0024 a0001c0080t0018 a0001c0086t0001 a0002c0002t0019 a0002c0116t0005 a0002c0120t0015 a0003c0106t0001 a0004c0005t0005 a0004c0006t0008 a0004c0040t0011 a0004c0042t0001 a0004c0043t0009 a0004c0062t0027 a0004c0063t0005 a0004c0088t0002 a0005c0026t0002 a0005c0035t0001 a0005c0051t0010 a0005c0143t0019 a0006c0022t0004 a0006c0023t0003 a0007c0111t0001 a0019c0057t0008 a0021c0025t0002	a0001c0003t0011g0014 a0001c0003t0023g0132 a0001c0003t0026g0157 others(51): Show a0001c0003t0011g0014 a0001c0003t0023g0132 a0001c0003t0026g0157 a0001c0007t0007g0088 a0001c0007t0010g0081 a0001c0008t0016g0087 a0001c0008t0021g0109 a0001c0018t0048g0141 a0001c0019t0049g0142 a0001c0028t0030g0073 a0001c0029t0006g0104 a0001c0031t0001g0082 a0001c0033t0004g0058 a0001c0034t0041g0112 a0001c0036t0046g0123 a0001c0044t0003g0005 a0001c0046t0014g0101 a0001c0048t0036g0149 a0001c0050t0035g0150 a0001c0052t0007g0134 a0001c0053t0010g0163 a0001c0054t0005g0083 a0001c0058t0009g0068 a0001c0059t0001g0135 a0001c0070t0022g0108 a0001c0071t0007g0011 a0001c0072t0001g0079 a0001c0073t0044g0077 a0001c0076t0015g0089 a0001c0077t0009g0155 a0001c0079t0024g0133 a0001c0080t0018g0151 a0001c0086t0001g0152 a0002c0002t0019g0099 a0002c0116t0005g0136 a0002c0120t0015g0156 a0003c0106t0001g0143 a0004c0005t0005g0128 a0004c0006t0008g0160 a0004c0040t0011g0162 a0004c0042t0001g0161 a0004c0043t0009g0147 a0004c0062t0027g0129 a0004c0063t0005g0006 a0004c0088t0002g0069 a0005c0026t0002g0120 a0005c0035t0001g0038 a0005c0051t0010g0066 a0005c0143t0019g0114 a0006c0022t0004g0124 a0006c0023t0003g0028 a0007c0111t0001g0074 a0019c0057t0008g0093 a0021c0025t0002g0115	54	166	0.3253	25	c.512 others(42): Show c.512-2385_512-2384insCTTTTTTCTTTTCTTTTTTTTTTTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	4/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAV2_chr11_19707837_20126601	19945153	C C	CTCCCTTC others(18): Show CTCCCTTCCCTTCCCTTCCCTTCCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03239.hp1 HG03239.hp2 HG01952.hp2 HG03239.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0036 a0002c0105 a0002c0138 a0001c0036 a0002c0105 a0002c0138	a0001c0036t0046 a0002c0105t0020 a0002c0138t0001 a0001c0036t0046 a0002c0105t0020 a0002c0138t0001	a0001c0036t0046g0123 a0002c0105t0020g0094 a0002c0138t0001g0035 a0001c0036t0046g0123 a0002c0105t0020g0094 a0002c0138t0001g0035	3	100	0.0300	25	c.214 others(44): Show c.2147-1221_2147-1197dupCCCTTCCCTTCCCTTCCCTTCCCTT	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAXE_chr1_156586776_156599299	156591765	G G	GGGGCCGG others(18): Show GGGGCCGGGCCGGGCCGGGCCGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	10	0.1000	25	c.-40 others(32): Show c.-40_-39insGGGCCGGGCCGGGCCGGGCCGGGCC	NAXE	ENSG00000163382.13	transcript	ENST00000368235.8	protein_coding		10		chr1	TogoVar
NBAS_chr2_15161916_15566334	15541852	G G	GGGCGCCT others(18): Show GGGCGCCTCTGCCCGGCCGCCCCTAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02257.hp1 others(10): Show HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2 NA19030.hp2 NA19080.hp1 NA19240.hp2	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0012 a0024 a0025	a0001c0003 a0003c0011 a0009c0027 others(3): Show a0001c0003 a0003c0011 a0009c0027 a0012c0012 a0024c0026 a0025c0029	a0001c0003t0001 a0003c0011t0001 a0009c0027t0001 others(3): Show a0001c0003t0001 a0003c0011t0001 a0009c0027t0001 a0012c0012t0001 a0024c0026t0001 a0025c0029t0001	a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 others(10): Show a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0039 a0003c0011t0001g0022 a0003c0011t0001g0034 a0009c0027t0001g0026 a0012c0012t0001g0032 a0012c0012t0001g0143 a0024c0026t0001g0021 a0025c0029t0001g0031	13	222	0.0586	25	c.380 others(42): Show c.380-2497_380-2496insGTAGGGGCGGCCGGGCAGAGGCGCC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	6/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15541902	G G	GGGCGCCT others(18): Show GGGCGCCTCTGCCCGGCCGCCCCTAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	222	0.0045	25	c.380 others(42): Show c.380-2547_380-2546insGTAGGGGCGGCCGGGCAGAGGCGCC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding	6/51			chr2	TogoVar
NBAS_chr2_15161916_15566334	15561371	T T	TGTGAGGG others(18): Show TGTGAGGGGATTCCGTAGAGACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	222	0.0045	25	c.-68 others(32): Show c.-68_-67insGAGTGTCTCTACGGAATCCCCTCAC	NBAS	ENSG00000151779.14	transcript	ENST00000281513.10	protein_coding		38		chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203119424	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	31	0.0323	25	c.259 others(44): Show c.2593-2810_2593-2809insTTTTTTTTTTTTTTTTTTTTTTTTT	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	18/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEAL1_chr2_203009875_203230194	203154142	A A	AGGAGAAT others(18): Show AGGAGAATGGCATGAACCCGGGAGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp1 HG01168.hp1 others(18): Show HG00733.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01884.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp1 NA19043.hp1 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0011 a0003c0003 a0003c0011	a0003c0003t0004 a0003c0003t0010 a0003c0011t0011 a0003c0003t0004 a0003c0003t0010 a0003c0011t0011	a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0004g0027 others(18): Show a0003c0003t0004g0025 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0030 a0003c0003t0004g0031 a0003c0003t0004g0032 a0003c0003t0004g0033 a0003c0003t0004g0034 a0003c0003t0004g0035 a0003c0003t0004g0036 a0003c0003t0004g0037 a0003c0003t0004g0038 a0003c0003t0004g0039 a0003c0003t0004g0040 a0003c0003t0004g0042 a0003c0003t0010g0041 a0003c0003t0010g0044 a0003c0011t0011g0024 a0003c0011t0011g0043	21	290	0.0724	25	c.558 others(44): Show c.5587+2558_5587+2582dupAATGGCATGAACCCGGGAGGCGGAG	NBEAL1	ENSG00000144426.19	transcript	ENST00000683969.1	protein_coding	35/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
NBEA_chr13_34937270_35677736	35150793	T T	TTAGAGTA others(18): Show TTAGAGTAGAGTAGAGTAGAGTAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02735.hp2 others(4): Show HG02145.hp2 HG02486.hp1 HG02735.hp2 HG03098.hp2 HG04184.hp1 HG04204.hp2 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0022	a0001c0001t0007 a0001c0003t0005 a0001c0003t0008 others(3): Show a0001c0001t0007 a0001c0003t0005 a0001c0003t0008 a0001c0003t0018 a0001c0005t0016 a0002c0022t0004	a0001c0001t0007g0025 a0001c0003t0005g0009 a0001c0003t0008g0007 others(4): Show a0001c0001t0007g0025 a0001c0003t0005g0009 a0001c0003t0008g0007 a0001c0003t0008g0008 a0001c0003t0018g0006 a0001c0005t0016g0015 a0002c0022t0004g0017	7	34	0.2059	25	c.244 others(44): Show c.2446-4967_2446-4943dupAGTAGAGTAGAGTAGAGTAGAGTAG	NBEA	ENSG00000172915.20	transcript	ENST00000379939.7	protein_coding	18/58		INFO_REALIGN_3_PRIME	chr13	TogoVar
NBPF15_chr1_144416390_144466669	144442166	A A	ATATATAT others(18): Show ATATATATATAATATATATACACGTG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG04199.hp1 HG02080.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0127 a0001c0002t0001g0341 a0001c0001t0001g0127 a0001c0002t0001g0341	2	392	0.0051	25	c.-19 others(44): Show c.-190-1872_-190-1871insCACGTGTATATATATTATATATATA	NBPF15	ENSG00000266338.7	transcript	ENST00000581897.7	protein_coding	6/21			chr1	TogoVar
NCAM2_chr21_20993409_21548329	21106314	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp2 others(2): Show HG00558.hp1 HG00558.hp2 HG00609.hp2 NA18955.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0003 a0001c0001t0028 a0001c0004t0001 others(2): Show a0001c0001t0003 a0001c0001t0028 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0003g0099 a0001c0001t0028g0093 a0001c0004t0001g0029 others(2): Show a0001c0001t0003g0099 a0001c0001t0028g0093 a0001c0004t0001g0029 a0002c0002t0001g0094 a0002c0002t0003g0100	5	11	0.4545	25	c.55+ others(44): Show c.55+107711_55+107712insAAAAAAAAAAAAAAAAAAAAAAAAA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
NCAM2_chr21_20993409_21548329	21264980	T T	TGTATGTG others(18): Show TGTATGTGTATATATACACATACACA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	132	0.0076	25	c.56- others(42): Show c.56-15598_56-15597insGTATGTGTATATATACACATACACA	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	1/17			chr21	TogoVar
NCAM2_chr21_20993409_21548329	21431123	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03516.hp2 HG02523.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0034 a0001c0001t0001 a0002c0002t0034	a0001c0001t0001g0079 a0002c0002t0034g0059 a0001c0001t0001g0079 a0002c0002t0034g0059	2	50	0.0400	25	c.148 others(42): Show c.1481-985_1481-984insGTGTGTGTGTGTGTGTGTGTGTGTG	NCAM2	ENSG00000154654.15	transcript	ENST00000400546.6	protein_coding	11/17			chr21	TogoVar

Search by Variant

Search

Search Results