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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NCOA1_chr2_24486254_24775702	24576145	CTTTGTTT others(14): Show CTTTGTTTTTTTTTTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18991.hp2 HG03654.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0162 a0001c0001t0001g0142 a0001c0001t0001g0162	2	314	0.0064	-21	c.-25 others(40): Show c.-259-8313_-259-8293delGTTTTTTGTTTTTTTTTTTTT	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA1_chr2_24486254_24775702	24608246	CTATTATT others(14): Show CTATTATTATTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	314	0.0032	-21	c.-17 others(42): Show c.-175+23718_-175+23738delATTATTATTATTATTATTATT	NCOA1	ENSG00000084676.16	transcript	ENST00000348332.8	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCOA3_chr20_47496887_47661872	47594664	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0147 a0003c0004t0003g0147	1	316	0.0032	-21	c.-20 others(40): Show c.-20+11414_-20+11434delAAAAAAAAAAAAAAAAAAAAA	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA4_chr10_46000088_46035623	46012066	GAAAGAAA others(14): Show GAAAGAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0114 a0002c0004t0005g0114	1	412	0.0024	-21	c.714 others(36): Show c.714+796_714+816delTTTTTTTTTTTTTTTTTCTTT	NCOA4	ENSG00000266412.6	transcript	ENST00000581486.6	protein_coding	7/9			chr10	TogoVar
NCOA7_chr6_125785960_125937034	125840867	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	270	0.0037	-21	c.51- others(38): Show c.51-14152_51-14132delGTTTTTTTTTTTTTTTTTTTT	NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	2/15			chr6	TogoVar
NCOA7_chr6_125785960_125937034	125840868	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(53): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02080.hp2 HG02132.hp2 HG02486.hp2 HG02698.hp2 HG02735.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04199.hp2 NA18939.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18986.hp1 NA18987.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19060.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp1 NA19086.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0054 a0001c0001t0001g0109 a0001c0001t0001g0121 others(53): Show a0001c0001t0001g0054 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0267 a0001c0001t0002g0174 a0001c0001t0002g0217 a0001c0001t0002g0228 a0001c0001t0005g0266 a0001c0001t0009g0173 a0001c0001t0009g0186 a0001c0001t0009g0188 a0001c0001t0016g0232 a0002c0002t0002g0069 a0003c0003t0003g0218	56	270	0.2074	-21	c.51- others(38): Show c.51-14130_51-14110delTTTTTTTTTTTTTTTTTTTTT	NCOA7	ENSG00000111912.20	transcript	ENST00000392477.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
NCOR1_chr17_16024157_16220534	16092681	ATATATAT others(14): Show ATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0177 a0001c0004t0028g0177	1	282	0.0036	-21	c.282 others(38): Show c.2821-644_2821-624delAAAAAAATATATATATATATA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16092687	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03831.hp1 HG02615.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0042 a0001c0001t0001g0043	2	282	0.0071	-21	c.282 others(38): Show c.2821-650_2821-630delAAAAAAAAAAAAATATATATA	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR2_chr12_124319415_124572612	124475320	CAGTCCTC others(14): Show CAGTCCTCTGCACACCCCATGA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0045 a0045	a0045c0076 a0045c0076	a0045c0076t0001 a0045c0076t0001	a0045c0076t0001g0150 a0045c0076t0001g0150	1	234	0.0043	-21	c.412 others(38): Show c.412-2210_412-2190delTCATGGGGTGTGCAGAGGACT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	5/48			chr12	TogoVar
NCR1_chr19_54901148_54918073	54912599	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01516.hp1 HG01891.hp2 others(3): Show HG01074.hp2 HG01516.hp1 HG01891.hp2 HG02055.hp1 HG02738.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0037 a0001c0003t0004g0045 a0001c0003t0004g0207 a0001c0003t0004g0037 a0001c0003t0004g0045 a0001c0003t0004g0207	6	457	0.0131	-21	c.734 others(34): Show c.734-72_734-52delAAAAAAAAAAAAAAAAAAAAA	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
NCS1_chr9_130167404_130242303	130176165	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp1 HG02109.hp1 others(1): Show HG01255.hp1 HG01258.hp1 HG02109.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0001t0110 a0001c0002t0040 others(1): Show a0001c0001t0033 a0001c0001t0110 a0001c0002t0040 a0001c0002t0073	a0001c0001t0033g0031 a0001c0001t0110g0030 a0001c0002t0040g0033 others(1): Show a0001c0001t0033g0031 a0001c0001t0110g0030 a0001c0002t0040g0033 a0001c0002t0073g0028	4	348	0.0115	-21	c.64+ others(36): Show c.64+3439_64+3459delCTTTCTTTCTTTCTTTCTTTC	NCS1	ENSG00000107130.10	transcript	ENST00000372398.6	protein_coding	1/7			chr9	TogoVar
NDFIP1_chr5_142103779_142159440	142143993	TTAATAAT others(14): Show TTAATAATAATAATAATAATAA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0118 a0001c0001t0008g0118	1	392	0.0026	-21	c.563 others(36): Show c.563-563_563-543delATAATAATAATAATAATAATA	NDFIP1	ENSG00000131507.11	transcript	ENST00000253814.6	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
NDRG3_chr20_36646771_36751090	36746079	AGCGGCGG others(14): Show AGCGGCGGCGGCGGCGGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0282 a0001c0001t0004g0282	1	298	0.0034	-21	c.-10 others(29): Show c.-104_-84delCGCCGCCGCCGCCGCCGCCGC	NDRG3	ENSG00000101079.21	transcript	ENST00000349004.6	protein_coding	1/16	24345		chr20	TogoVar
NDUFA10_chr2_239952372_240030342	239973550	CACGATCA others(14): Show CACGATCAGCTTCAAGGAGGGA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18999.hp2 NA19079.hp1 others(2): Show NA18970.hp2 NA18999.hp2 NA19079.hp1 NA19083.hp1 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0002 a0003c0007t0010 a0001c0002t0002 a0003c0007t0010	a0001c0002t0002g0205 a0003c0007t0010g0005 a0003c0007t0010g0170 a0001c0002t0002g0205 a0003c0007t0010g0005 a0003c0007t0010g0170	5	412	0.0121	-21	c.100 others(42): Show c.1000-12385_1000-12365delTCCCTCCTTGAAGCTGATCGT	NDUFA10	ENSG00000130414.13	transcript	ENST00000252711.7	protein_coding	9/9			chr2	TogoVar
NDUFA12_chr12_94966333_95008697	94969278	ATTGTGAT others(14): Show ATTGTGATTCTCCTGGAGAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	442	0.0023	-21	c.21 others(32): Show c.2141_*2161delATTTCTCCAGGAGAATCACAA	NDUFA12	ENSG00000184752.14	transcript	ENST00000327772.7	protein_coding		2054		chr12	TogoVar
NDUFAF2_chr5_60940205_61158026	60944706	CCCCCCCC others(14): Show CCCCCCCCCCACCCCCGGGGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03471.hp2 HG02630.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0197 a0001c0004t0001g0198	2	266	0.0075	-21	c.-54 others(30): Show c.-549_-529delCCCCCCCCCACCCCCGGGGAA	NDUFAF2	ENSG00000164182.12	transcript	ENST00000296597.10	protein_coding		498		chr5	TogoVar
NDUFB4_chr3_120591336_120607507	120597003	CTATATAT others(14): Show CTATATATATGCATATATATTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp2 HG03471.hp1 HG02922.hp1 HG03225.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	3	424	0.0071	-21	c.180 others(36): Show c.180+485_180+505delTTATATATATGCATATATATT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
NDUFS5_chr1_39021350_39039615	39030787	AAGGTGGA others(14): Show AAGGTGGAAAGAACATTGGATT	A A	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	438	0.0023	-21	c.216 others(38): Show c.216+1848_216+1868delAGGTGGAAAGAACATTGGATT	NDUFS5	ENSG00000168653.11	transcript	ENST00000372969.8	protein_coding	2/2			chr1	TogoVar
NECAB2_chr16_83963244_84007776	83999873	GGTTTTTT others(14): Show GGTTTTTTGATTTTTAAAGGTT	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0265 a0002c0003t0003g0265	1	354	0.0028	-21	c.963 others(36): Show c.963-850_963-830delGTTTTTTGATTTTTAAAGGTT	NECAB2	ENSG00000103154.10	transcript	ENST00000305202.9	protein_coding	10/12			chr16	TogoVar
NECAP2_chr1_16435724_16465078	16464517	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTCTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	386	0.0026	-21	c.56 others(32): Show c.5628_*5648delTTTTTTTTTTTTTTTCTTTTT	NECAP2	ENSG00000157191.20	transcript	ENST00000337132.10	protein_coding		4440		chr1	TogoVar
NECTIN1_chr11_119655992_119734200	119731206	TATTTTAT others(14): Show TATTTTATTTTAATTTAATTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00642.hp1 others(39): Show HG00099.hp1 HG00408.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp1 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03704.hp2 HG03710.hp2 NA18906.hp1 NA18940.hp1 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18980.hp1 NA18982.hp1 NA18995.hp2 NA18998.hp1 NA19077.hp1 NA19088.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0023 a0001c0001t0030 a0001c0001t0042 a0001c0007t0002 a0002c0002t0006 a0004c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0025 others(35): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0002g0204 a0001c0001t0002g0210 a0001c0001t0002g0220 a0001c0001t0002g0242 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0268 a0001c0001t0002g0289 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0005g0252 a0001c0001t0008g0221 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0023g0029 a0001c0001t0030g0291 a0001c0001t0042g0209 a0001c0007t0002g0218 a0001c0007t0002g0219 a0002c0002t0006g0201 a0002c0002t0006g0202 a0002c0002t0006g0203 a0004c0005t0001g0265	42	348	0.1207	-21	c.-26 others(32): Show c.-2674_-2654delTAAATTAAATTAAAATAAAAT	NECTIN1	ENSG00000110400.11	transcript	ENST00000264025.8	protein_coding		2007		chr11	TogoVar
NEGR1_chr1_71390943_72287539	71609514	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp1 NA19043.hp1 HG02970.hp2 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0024 a0001c0003t0008 a0001c0003t0024	a0001c0003t0008g0013 a0001c0003t0008g0016 a0001c0003t0024g0021 a0001c0003t0008g0013 a0001c0003t0008g0016 a0001c0003t0024g0021	3	64	0.0469	-21	c.788 others(38): Show c.788+1491_788+1511delTTTTTTTTTTTTTTTTTTTTT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	5/6			chr1	TogoVar
NEGR1_chr1_71390943_72287539	71942477	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19043.hp2 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0004 a0001c0001t0026 a0001c0002t0004	a0001c0001t0026g0015 a0001c0002t0004g0017 a0001c0001t0026g0015 a0001c0002t0004g0017	2	64	0.0313	-21	c.177 others(38): Show c.177-7187_177-7167delAAAAAAAAAAAAAAATATATA	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	1/6			chr1	TogoVar
NEK10_chr3_27101484_27374383	27282619	ATATATAT others(14): Show ATATATATATACATAACTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	234	0.0043	-21	c.201 others(40): Show c.2014+1962_2014+1982delACACAGTTATGTATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK10_chr3_27101484_27374383	27364364	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0056 a0001c0002t0008g0056	1	234	0.0043	-21	c.-38 others(38): Show c.-38+4840_-38+4860delACACACACACACACACACACA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	1/35			chr3	TogoVar
NEK11_chr3_131021877_131355465	131309987	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	292	0.0034	-21	c.171 others(42): Show c.1718+36429_1718+36449delAAAAAAAAAAAAAAAAAAAAA	NEK11	ENSG00000114670.14	transcript	ENST00000383366.9	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEK7_chr1_198151998_198327420	198252547	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19012.hp2 NA18999.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0062 a0001c0001t0001g0063	2	346	0.0058	-21	c.58- others(34): Show c.58-491_58-471delTATATATATATATATATATAA	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEK9_chr14_75074353_75132048	75100128	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0218 a0001c0001t0026g0218	1	278	0.0036	-21	c.200 others(38): Show c.2002+843_2002+863delTTTTTTTTTTTTTTTTTTTTT	NEK9	ENSG00000119638.14	transcript	ENST00000238616.10	protein_coding	16/21			chr14	TogoVar
NELL1_chr11_20664586_21580686	20755864	GGTTTTTT others(14): Show GGTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0019 a0001c0004t0001g0019	1	88	0.0114	-21	c.185 others(40): Show c.185-27815_185-27795delGTTTTTTTTTTTTTTTTTTTT	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	2/19			chr11	TogoVar
NELL1_chr11_20664586_21580686	20852189	GGCACATA others(14): Show GGCACATACACACACATCTGCA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18999.hp1 HG00642.hp1 NA18999.hp1	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0001 a0002c0009t0001 a0002c0003t0001 a0002c0009t0001	a0002c0003t0001g0048 a0002c0009t0001g0063 a0002c0003t0001g0048 a0002c0009t0001g0063	2	88	0.0227	-21	c.506 others(38): Show c.506+4439_506+4459delACATACACACACATCTGCAGC	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NELL1_chr11_20664586_21580686	20895271	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0070 a0001c0011t0001g0070	1	88	0.0114	-21	c.603 others(38): Show c.603+9754_603+9774delAAAAAAAAAAAAAAAAAAAAA	NELL1	ENSG00000165973.19	transcript	ENST00000357134.10	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
NEO1_chr15_73047463_73310205	73155213	GTGGTGGT others(14): Show GTGGTGGTGGTGGTGATACTGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0120 a0001c0005t0003g0120	1	324	0.0031	-21	c.101 others(42): Show c.1015+19201_1015+19221delATACTGATGGTGGTGGTGGTG	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEPRO_chr3_112997444_113024671	112999289	CTTTATGG others(14): Show CTTTATGGGTCATTATTTTTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	454	0.0022	-21	c.62 others(32): Show c.6226_*6246delATAAAAATAATGACCCATAAA	NEPRO	ENSG00000163608.15	transcript	ENST00000314400.10	protein_coding		3154		chr3	TogoVar
NEU4_chr2_241804193_241822413	241805978	CAGCCCAA others(14): Show CAGCCCAAGGGACCTAGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 NA19068.hp1 NA20805.hp2 HG01255.hp2 NA19068.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001	a0001c0001t0003g0191 a0001c0002t0001g0002 a0001c0004t0001g0117 a0001c0001t0003g0191 a0001c0002t0001g0002 a0001c0004t0001g0117	3	319	0.0094	-21	c.-32 others(32): Show c.-3299_-3279delAGCCCAAGGGACCTAGGCAGG	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3214		chr2	TogoVar
NEU4_chr2_241804193_241822413	241812101	CAGAGGGT others(14): Show CAGAGGGTGTGTGCGGACCCCA	C C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0001	a0006c0021t0001g0173 a0006c0021t0001g0173	1	319	0.0031	-21	c.-3- others(36): Show c.-3-2380_-3-2360delAGAGGGTGTGTGCGGACCCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3			chr2	TogoVar
NEURL1B_chr5_172636263_172696540	172662799	ACCACCCA others(14): Show ACCACCCACAGACACTCATCAC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(1): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0004 a0001c0001t0010 a0001c0002t0004	a0001c0001t0010g0134 a0001c0002t0004g0159 a0001c0002t0004g0160 others(1): Show a0001c0001t0010g0134 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0183	4	392	0.0102	-21	c.32- others(36): Show c.32-6979_32-6959delACAGACACTCATCACCCACCC	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
NEURL1B_chr5_172636263_172696540	172690701	CCAGAACC others(14): Show CCAGAACCTGCTGTGCGCTTCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02809.hp1 others(1): Show HG02145.hp2 HG02258.hp2 HG02809.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0222 a0001c0001t0014g0223 a0001c0001t0014g0342 others(1): Show a0001c0001t0014g0222 a0001c0001t0014g0223 a0001c0001t0014g0342 a0001c0001t0014g0343	4	392	0.0102	-21	c.37 others(32): Show c.3785_*3805delGCTGTGCGCTTCACAGAACCT	NEURL1B	ENSG00000214357.9	transcript	ENST00000369800.6	protein_coding	5/5	3785	INFO_REALIGN_3_PRIME	chr5	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(14): Show TTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18973.hp2 NA19004.hp1 HG02165.hp2 NA18973.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0003g0069 a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0003g0069	3	268	0.0112	-21	c.-89 others(30): Show c.-899_-879delTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NF1_chr17_31089977_31382675	31326975	GGAGTGCA others(14): Show GGAGTGCAGTGGCGTGATCTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00558.hp2 others(82): Show HG00099.hp1 HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 NA18612.hp2 NA18942.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19082.hp1 NA19085.hp1 NA19087.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0001c0012 a0001c0015 a0001c0018 a0003c0013 a0006c0019	a0001c0001t0016 a0001c0001t0020 a0001c0002t0002 others(14): Show a0001c0001t0016 a0001c0001t0020 a0001c0002t0002 a0001c0002t0014 a0001c0002t0024 a0001c0002t0028 a0001c0002t0030 a0001c0002t0031 a0001c0004t0006 a0001c0004t0009 a0001c0004t0021 a0001c0011t0003 a0001c0012t0008 a0001c0015t0002 a0001c0018t0002 a0003c0013t0002 a0006c0019t0013	a0001c0001t0016g0127 a0001c0001t0020g0126 a0001c0002t0002g0153 others(82): Show a0001c0001t0016g0127 a0001c0001t0020g0126 a0001c0002t0002g0153 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0210 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0237 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0014g0184 a0001c0002t0024g0002 a0001c0002t0028g0176 a0001c0002t0030g0199 a0001c0002t0031g0154 a0001c0004t0006g0164 a0001c0004t0006g0234 a0001c0004t0006g0235 a0001c0004t0006g0239 a0001c0004t0009g0129 a0001c0004t0009g0130 a0001c0004t0021g0128 a0001c0011t0003g0003 a0001c0011t0003g0004 a0001c0012t0008g0006 a0001c0012t0008g0029 a0001c0015t0002g0162 a0001c0018t0002g0226 a0003c0013t0002g0167 a0003c0013t0002g0168 a0006c0019t0013g0161	85	252	0.3373	-21	c.526 others(38): Show c.5269-490_5269-470delGTGATCTCAGAGTGCAGTGGC	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	37/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFASC_chr1_204823652_205027822	204926396	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0171 a0002c0003t0001g0171	1	226	0.0044	-21	c.-91 others(38): Show c.-91+5658_-91+5678delATATATATATTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204926398	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01074.hp1 others(32): Show HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02132.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03942.hp2 HG06807.hp2 NA18906.hp1 NA18969.hp2 NA18970.hp2 NA19009.hp2 NA19010.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0001c0014 a0001c0021 a0001c0022 a0001c0027 a0002c0003 a0002c0006 a0002c0008 a0003c0019 a0003c0024	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0025 a0001c0004t0001 a0001c0005t0005 a0001c0005t0006 a0001c0005t0022 a0001c0010t0005 a0001c0014t0001 a0001c0021t0001 a0001c0022t0001 a0001c0027t0014 a0002c0003t0001 a0002c0003t0002 a0002c0006t0001 a0002c0008t0011 a0003c0019t0005 a0003c0024t0003	a0001c0001t0001g0082 a0001c0001t0001g0163 a0001c0001t0005g0133 others(30): Show a0001c0001t0001g0082 a0001c0001t0001g0163 a0001c0001t0005g0133 a0001c0002t0001g0023 a0001c0002t0001g0205 a0001c0002t0002g0073 a0001c0002t0006g0195 a0001c0002t0008g0137 a0001c0002t0025g0042 a0001c0004t0001g0013 a0001c0004t0001g0071 a0001c0004t0001g0083 a0001c0004t0001g0087 a0001c0004t0001g0091 a0001c0004t0001g0174 a0001c0004t0001g0176 a0001c0005t0005g0061 a0001c0005t0006g0152 a0001c0005t0006g0172 a0001c0005t0022g0089 a0001c0010t0005g0175 a0001c0014t0001g0002 a0001c0014t0001g0200 a0001c0021t0001g0198 a0001c0022t0001g0092 a0001c0027t0014g0184 a0002c0003t0001g0001 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0006t0001g0017 a0002c0008t0011g0102 a0003c0019t0005g0007 a0003c0024t0003g0115	35	226	0.1549	-21	c.-91 others(38): Show c.-91+5660_-91+5680delATATATATTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	204926400	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0144 a0001c0002t0011g0144	1	226	0.0044	-21	c.-91 others(38): Show c.-91+5662_-91+5682delATATATTTTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204823652_205027822	205015285	GAGACCCA others(14): Show GAGACCCAGACTCCCACTGCTC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0011 a0011	a0011c0037 a0011c0037	a0011c0037t0004 a0011c0037t0004	a0011c0037t0004g0110 a0011c0037t0004g0110	1	226	0.0044	-21	c.349 others(39): Show c.3492-1000_3492-980delGACCCAGACTCCCACTGCTCA	NFASC	ENSG00000163531.17	transcript	ENST00000339876.11	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926396	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	264	0.0038	-21	c.-90 others(40): Show c.-90-17828_-90-17808delATATATATATTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926398	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG01074.hp2 others(41): Show HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02132.hp1 HG02257.hp1 HG02451.hp2 HG02622.hp2 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18969.hp2 NA18970.hp2 NA19009.hp2 NA19010.hp2 NA19075.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0042 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0024 a0001c0006t0003 a0001c0007t0016 a0001c0009t0001 a0001c0010t0001 a0001c0014t0004	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0058 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0058 a0001c0001t0001g0158 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0003g0045 a0001c0001t0012g0099 a0001c0001t0042g0114 a0001c0001t0051g0021 a0001c0002t0001g0018 a0001c0002t0001g0050 a0001c0002t0001g0079 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0142 a0001c0002t0001g0163 a0001c0002t0001g0178 a0001c0002t0001g0190 a0001c0002t0001g0206 a0001c0002t0001g0256 a0001c0002t0001g0261 a0001c0002t0002g0055 a0001c0002t0002g0151 a0001c0002t0003g0175 a0001c0002t0003g0236 a0001c0002t0006g0129 a0001c0002t0008g0043 a0001c0002t0009g0242 a0001c0002t0012g0125 a0001c0003t0001g0119 a0001c0003t0003g0138 a0001c0003t0006g0093 a0001c0003t0006g0102 a0001c0003t0024g0222 a0001c0006t0003g0260 a0001c0007t0016g0096 a0001c0007t0016g0103 a0001c0009t0001g0002 a0001c0009t0001g0118 a0001c0010t0001g0091 a0001c0014t0004g0228	44	264	0.1667	-21	c.-90 others(40): Show c.-90-17826_-90-17806delATATATATTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	204926400	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp2 HG02922.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0009 a0001c0002t0008 a0001c0002t0009	a0001c0002t0008g0240 a0001c0002t0009g0037 a0001c0002t0008g0240 a0001c0002t0009g0037	2	264	0.0076	-21	c.-90 others(40): Show c.-90-17824_-90-17804delATATATTTTTTTTTTTTTTTT	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFASC_chr1_204865862_205027822	205015285	GAGACCCA others(14): Show GAGACCCAGACTCCCACTGCTC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0140 a0001c0002t0005g0140	1	264	0.0038	-21	c.333 others(39): Show c.3339-1000_3339-980delGACCCAGACTCCCACTGCTCA	NFASC	ENSG00000163531.17	transcript	ENST00000539706.6	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
NFATC1_chr18_79390930_79534323	79478222	GGCTTGTG others(14): Show GGCTTGTGCCTGCCACCGTGTT	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0058 a0002c0002t0058	a0002c0002t0058g0245 a0002c0002t0058g0245	1	322	0.0031	-21	c.209 others(40): Show c.2093-8022_2093-8002delTGTGCCTGCCACCGTGTTGCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC2_chr20_51381963_51547719	51391190	TAAAACAT others(14): Show TAAAACATAAACCGAAAAGAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02717.hp2 others(3): Show HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02976.hp1 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0008 a0001c0002t0008 a0001c0003t0033 others(1): Show a0001c0001t0008 a0001c0002t0008 a0001c0003t0033 a0001c0007t0032	a0001c0001t0008g0232 a0001c0001t0008g0247 a0001c0001t0008g0255 others(3): Show a0001c0001t0008g0232 a0001c0001t0008g0247 a0001c0001t0008g0255 a0001c0002t0008g0167 a0001c0003t0033g0248 a0001c0007t0032g0301	6	316	0.0190	-21	c.28 others(30): Show c.285_*305delCTTCTTTTCGGTTTATGTTTT	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	11/11	7476		chr20	TogoVar
NFATC3_chr16_68080370_68234259	68100887	CTGTGTGT others(14): Show CTGTGTGTGTGTGTGTGTGGGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	188	0.0053	-21	c.103 others(40): Show c.103+15122_103+15142delGGGTGTGTGTGTGTGTGTGTG	NFATC3	ENSG00000072736.19	transcript	ENST00000346183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar

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