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
NEU4_chr2_241804193_241822413	241812487	C C	CGAGGACA others(36): Show CGAGGACACGGAGGCTCTGTGGAACCCAGGGAACTGGTCACACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00733.hp1 others(20): Show HG00140.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03516.hp2 NA18906.hp2 NA20129.hp1	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0011 a0001c0001 a0001c0002 others(3): Show a0000c0011 a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0002c0003	a0000c0011t0009 a0001c0001t0003 a0001c0002t0001 others(4): Show a0000c0011t0009 a0001c0001t0003 a0001c0002t0001 a0001c0004t0001 a0001c0004t0010 a0001c0013t0001 a0002c0003t0002	a0000c0011t0009g0010 a0001c0001t0003g0010 a0001c0001t0003g0043 others(14): Show a0000c0011t0009g0010 a0001c0001t0003g0010 a0001c0001t0003g0043 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0002t0001g0187 a0001c0004t0001g0105 a0001c0004t0010g0104 a0001c0013t0001g0063 a0002c0003t0002g0027 a0002c0003t0002g0029 a0002c0003t0002g0103 a0002c0003t0002g0108	23	319	0.0721	43	c.-3- others(58): Show c.-3-1964_-3-1922dupAACTGGTCACACTGAGGACACGGAGGCTCT GTGGAACCCAGGG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
NFATC1_chr18_79390930_79534323	79427684	T T	TGGCTGGC others(36): Show TGGCTGGCCTCTGTGCAGTGGGTGGGGTTGGGGGGGTGCTGGAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG01243.hp2 others(14): Show HG01081.hp1 HG01243.hp1 HG01243.hp2 HG01952.hp2 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp1 HG03579.hp1 HG06807.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0001c0006 a0001c0008 others(4): Show a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0028 a0001c0048 a0005c0031	a0001c0004t0004 a0001c0006t0048 a0001c0008t0005 others(10): Show a0001c0004t0004 a0001c0006t0048 a0001c0008t0005 a0001c0008t0046 a0001c0010t0002 a0001c0010t0004 a0001c0010t0005 a0001c0010t0028 a0001c0010t0029 a0001c0028t0007 a0001c0028t0018 a0001c0048t0005 a0005c0031t0004	a0001c0004t0004g0078 a0001c0004t0004g0282 a0001c0006t0048g0049 others(14): Show a0001c0004t0004g0078 a0001c0004t0004g0282 a0001c0006t0048g0049 a0001c0008t0005g0288 a0001c0008t0046g0284 a0001c0010t0002g0080 a0001c0010t0004g0289 a0001c0010t0004g0290 a0001c0010t0005g0126 a0001c0010t0028g0004 a0001c0010t0028g0079 a0001c0010t0029g0081 a0001c0010t0029g0125 a0001c0028t0007g0127 a0001c0028t0018g0082 a0001c0048t0005g0283 a0005c0031t0004g0011	17	322	0.0528	43	c.122 others(62): Show c.1227-5868_1227-5826dupTTGGGGGGGTGCTGGACGGCTGGCCT CTGTGCAGTGGGTGGGG		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232993155	A A	ATATATAT others(36): Show ATATATATATATATTATATATATAAATAAATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0023 a0001c0002t0016g0023	1	362	0.0028	43	c.-74 others(62): Show c.-74-18192_-74-18191insAATAAATATATATATTTATTTATATA TATAATATATATATATA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NIBAN1_chr1_184786032_184979508	184913139	A A	ATATATAT others(36): Show ATATATATATATATATTATATATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02040.hp2 HG02074.hp1 others(8): Show HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02132.hp2 NA18948.hp1 NA18954.hp2 NA18982.hp2 NA19000.hp1 NA19005.hp1 NA19063.hp2 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0005 a0001c0014 a0002c0005	a0001c0014t0010 a0002c0005t0007 a0002c0005t0024 others(1): Show a0001c0014t0010 a0002c0005t0007 a0002c0005t0024 a0002c0005t0025	a0001c0014t0010g0169 a0001c0014t0010g0207 a0001c0014t0010g0238 others(8): Show a0001c0014t0010g0169 a0001c0014t0010g0207 a0001c0014t0010g0238 a0002c0005t0007g0083 a0002c0005t0007g0164 a0002c0005t0007g0165 a0002c0005t0007g0170 a0002c0005t0007g0191 a0002c0005t0007g0253 a0002c0005t0024g0124 a0002c0005t0025g0252	11	256	0.0430	43	c.56- others(60): Show c.56-13831_56-13830insATATATATATATAATATATATATATATA ATATATATATATATA		NIBAN1	ENSG00000135842.17	transcript	ENST00000367511.4	protein_coding	1/13						chr1	TogoVar
NIM1K_chr5_43187225_43285850	43189493	T T	TACAGTAA others(36): Show TACAGTAAGCCGAGATCACGCCACTGCACTCCAGCCAGGGCGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	292	0.0034	43	c.-36 others(54): Show c.-3613_-3612insACAGTAAGCCGAGATCACGCCACTGCACTCCAGC CAGGGCGAC		NIM1K	ENSG00000177453.7	transcript	ENST00000326035.6	protein_coding					2731		chr5	TogoVar
NINJ2_chr12_559296_668445	629896	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	404	0.0025	43	c.33+ others(60): Show c.33+33431_33+33432insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTT		NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3						chr12	TogoVar
NIP7_chr16_69334772_69348106	69339282	T T	TGAAGGGG others(36): Show TGAAGGGGGTCGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	400	0.0025	43	c.-54 others(52): Show c.-548_-547insGAAGGGGGTCGGGGGGGGGGGGGGTGGGGGGGGGGG GGGGGGG		NIP7	ENSG00000132603.15	transcript	ENST00000254940.10	protein_coding					489		chr16	TogoVar
NKX1-1_chr4_1397932_1411442	1398114	T T	TGGATGCC others(36): Show TGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0003 a0001c0001t0000g0003	1	382	0.0026	43	c.48 others(54): Show c.4817_*4818insCCTGATCTACCCACATCCAGATGCCCGAAAACAC CCGGCATCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4817		chr4	TogoVar
NLRP12_chr19_53788741_53829314	53823519	C C	CATATATT others(36): Show CATATATTTAAAATATATATATTTTAAAACATATTTTAAAATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0393 a0001c0001t0001g0393	1	416	0.0024	43	c.289 others(58): Show c.289+366_289+367insATATTTTAAAATATGTTTTAAAATATATAT ATTTTAAATATAT		NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9						chr19	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0388 a0005c0011t0001g0388	1	429	0.0023	43	c.326 others(58): Show c.326-941_326-940insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993445	C C	CCTCTCCC others(36): Show CCTCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCTCCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0000 a0000	a0000c0013 a0000c0013	a0000c0013t0068 a0000c0013t0068	a0000c0013t0068g0027 a0000c0013t0068g0027	1	350	0.0029	43	c.55 others(54): Show c.5532_*5533insCTCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCC CTCCCCCCT		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4817		chr19	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	413	0.0024	43	c.48 others(54): Show c.4818_*4819insAAAAAAAAAAAATATATATATATATATATATATA TATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(36): Show AAAAAAAAATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	413	0.0024	43	c.48 others(54): Show c.4818_*4819insAAAAAAAATATATATATATATATATATATATATA TATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME7_chr1_169127531_169372797	169345301	A A	ATTTTCTA others(36): Show ATTTTCTATTTTACTGTTTTCTACTCCAATACTTATCTCCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(33): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00738.hp2 HG01884.hp1 HG02027.hp2 HG02074.hp2 HG02129.hp2 HG02135.hp1 HG02293.hp2 HG02683.hp2 HG02896.hp1 HG02897.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA18747.hp1 NA18940.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18980.hp2 NA18985.hp1 NA18998.hp2 NA19006.hp2 NA19054.hp1 NA19065.hp1 NA19070.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0004 a0001c0001 a0003c0005 a0004c0004	a0001c0001t0002 a0003c0005t0002 a0004c0004t0002 a0001c0001t0002 a0003c0005t0002 a0004c0004t0002	a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 others(33): Show a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0003c0005t0002g0179 a0004c0004t0002g0166	36	302	0.1192	43	c.4-2 others(58): Show c.4-20844_4-20802dupGAAAGGAGATAAGTATTGGAGTAGAAAACA GTAAAATAGAAAA		NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11						chr1	TogoVar
NME8_chr7_37843597_37905397	37847905	A A	AGAAGAAG others(36): Show AGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAGGAAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG02293.hp1 others(5): Show HG00738.hp1 HG01496.hp1 HG02293.hp1 HG02818.hp2 HG02896.hp1 HG03453.hp2 HG03927.hp2 NA20752.hp2	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0003 a0006c0016 a0009c0022 a0003c0003 a0006c0016 a0009c0022	a0003c0003t0002 a0006c0016t0002 a0009c0022t0002 a0003c0003t0002 a0006c0016t0002 a0009c0022t0002	a0003c0003t0002g0025 a0003c0003t0002g0280 a0003c0003t0002g0322 others(4): Show a0003c0003t0002g0025 a0003c0003t0002g0280 a0003c0003t0002g0322 a0003c0003t0002g0330 a0006c0016t0002g0307 a0009c0022t0002g0274 a0009c0022t0002g0331	8	388	0.0206	43	c.-10 others(54): Show c.-1064_-1063insGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAG GAAGAAGAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					691		chr7	TogoVar
NOC4L_chr12_132139457_132157468	132149534	C C	CACCACAC others(36): Show CACCACACCCCAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0276 a0007c0011t0001g0276	1	294	0.0034	43	c.901 others(58): Show c.901+649_901+650insAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CCTACCACACCCC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149754	C C	CACACACC others(36): Show CACACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0179 a0001c0003t0001g0179	1	294	0.0034	43	c.901 others(58): Show c.901+861_901+862insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTAC		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAATATAT others(36): Show AAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	168	0.0060	43	c.773 others(60): Show c.773-4594_773-4593insATATATATATATATATATATATATATAT ATATATATATATATT		NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10						chr18	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(36): Show AGAGAGAGAGAAGAGAGGAGAGAGAGAGAGAAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG02698.hp2 others(7): Show HG00544.hp1 HG00558.hp1 HG02698.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 NA18945.hp1 NA18948.hp1 NA18962.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0004 a0001c0003t0003 a0001c0003t0031 a0002c0006t0008	a0001c0001t0002g0053 a0001c0001t0002g0122 a0001c0001t0004g0150 others(7): Show a0001c0001t0002g0053 a0001c0001t0002g0122 a0001c0001t0004g0150 a0001c0001t0005g0072 a0001c0002t0001g0134 a0001c0002t0001g0162 a0001c0002t0004g0109 a0001c0003t0003g0054 a0001c0003t0031g0178 a0002c0006t0008g0098	10	182	0.0550	43	c.178 others(62): Show c.178-25798_178-25797insAGAAGAGAGGAGAGAGAGAGAGAAGA GAGAAGAGAGGAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264469	C C	CTCTCCTC others(36): Show CTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02109.hp1 HG02615.hp1 others(1): Show HG01358.hp2 HG02109.hp1 HG02615.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0021 a0001c0002t0005 others(1): Show a0001c0001t0002 a0001c0001t0021 a0001c0002t0005 a0001c0003t0010	a0001c0001t0002g0102 a0001c0001t0021g0069 a0001c0002t0005g0060 others(1): Show a0001c0001t0002g0102 a0001c0001t0021g0069 a0001c0002t0005g0060 a0001c0003t0010g0068	4	182	0.0220	43	c.178 others(62): Show c.178-22875_178-22874insTCTCCTCTCCTCTCCTCTCCTCTCCT CCCCTCCCCTCCCCTGT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264469	C C	CTCTCCTC others(36): Show CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG02280.hp2 others(17): Show HG00741.hp1 HG01884.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02965.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03831.hp2 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0005 a0001c0003t0006 a0001c0003t0013 a0002c0006t0008	a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0122 others(17): Show a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0122 a0001c0001t0005g0072 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0017g0051 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0087 a0001c0002t0001g0134 a0001c0002t0002g0033 a0001c0002t0002g0182 a0001c0002t0004g0119 a0001c0002t0004g0124 a0001c0003t0005g0171 a0001c0003t0006g0106 a0001c0003t0013g0180 a0002c0006t0008g0095 a0002c0006t0008g0098	20	182	0.1099	43	c.178 others(62): Show c.178-22875_178-22874insTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCCCCTCCCCTGT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(36): Show GGTGGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	324	0.0031	43	c.140 others(60): Show c.140+8514_140+8515insTGCACCCATTGCCCCAGGAGGGATCCTG AGTGCTCCCCCCCAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535719	G G	GGTCGGGG others(36): Show GGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02071.hp1 NA20805.hp1 others(1): Show HG02040.hp2 HG02071.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0017 a0001c0002 a0001c0006 a0001c0017	a0001c0002t0002 a0001c0006t0002 a0001c0017t0002 a0001c0002t0002 a0001c0006t0002 a0001c0017t0002	a0001c0002t0002g0082 a0001c0006t0002g0122 a0001c0017t0002g0063 others(1): Show a0001c0002t0002g0082 a0001c0006t0002g0122 a0001c0017t0002g0063 a0001c0017t0002g0065	4	324	0.0124	43	c.140 others(60): Show c.140+8304_140+8305insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCGAC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535730	A A	AGCACTCA others(36): Show AGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02738.hp2 HG00323.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0030 a0001c0009t0001 a0001c0003t0030 a0001c0009t0001	a0001c0003t0030g0283 a0001c0009t0001g0294 a0001c0003t0030g0283 a0001c0009t0001g0294	2	324	0.0062	43	c.140 others(60): Show c.140+8293_140+8294insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOX4_chr11_89319353_89496375	89438549	A A	ATATAGTA others(36): Show ATATAGTATATATTATATACTATATATAATATATAGTATATATT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG03130.hp1 HG02647.hp2 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0011 a0001c0002t0029 a0001c0001t0024 a0001c0002t0011 a0001c0002t0029	a0001c0001t0024g0155 a0001c0002t0011g0156 a0001c0002t0029g0168 a0001c0001t0024g0155 a0001c0002t0011g0156 a0001c0002t0029g0168	3	288	0.0104	43	c.475 others(60): Show c.475+2138_475+2139insAATATATACTATATATTATATATAGTAT ATAATATATACTATA		NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	6/17						chr11	TogoVar
NPAS3_chr14_32933879_33809173	33301323	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0008 a0001c0001t0020g0008	1	92	0.0109	43	c.386 others(62): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATATATATATATATATA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11						chr14	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0157 a0001c0003t0002g0157	1	208	0.0048	43	c.517 others(60): Show c.517+2357_517+2358insAAAAAAAAAAAAAAATATATATATATAT ATATATATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPIPB7_chr16_28451329_28477336	28456547	C C	CGATTGTT others(36): Show CGATTGTTCCACCTCATCCACCCTCCGCCTCCTTGGGTTTCGGT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02109.hp2 HG02109.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0005 a0020c0022t0005	a0020c0022t0005g0099 a0020c0022t0005g0099	1	382	0.0026	43	c.112 others(52): Show c.1121_1122insACCGAAACCCAAGGAGGCGGAGGGTGGATGAGGTGG AACAATC	p.Arg others(5): Show p.Arg379fs	NPIPB7	ENSG00000233232.8	transcript	ENST00000452313.6	protein_coding	7/7	3019/3238	1121/1245	374/414			chr16	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18998.hp2 HG00639.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0115 a0001c0001t0001g0044 a0001c0001t0001g0115	2	188	0.0106	43	c.700 others(62): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTT		NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9						chr5	TogoVar
NRG4_chr15_75935936_76017424	75996489	A A	AGACAGTG others(36): Show AGACAGTGAAATAAAGAGATACAAAAGAACACACTTTTGAAAGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	368	0.0027	43	c.104 others(62): Show c.104+12668_104+12710dupCCTTTCAAAAGTGTGTTCTTTTGTAT CTCTTTATTTCACTGTC		NRG4	ENSG00000169752.17	transcript	ENST00000394907.8	protein_coding	3/5						chr15	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(36): Show CACATTTTATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0060 a0001c0001t0059g0060	1	116	0.0086	43	c.336 others(64): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATATATAAAATGT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0052 a0001c0001t0053g0052	1	116	0.0086	43	c.833 others(62): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	79006160	T T	TGAGAGAA others(36): Show TGAGAGAAGATTGTAAGCCTTGCTGAGAGATTGTAAGCCTTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03453.hp1 HG03453.hp2 others(2): Show HG01109.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0013 a0001c0002t0007 others(2): Show a0001c0001t0003 a0001c0001t0013 a0001c0002t0007 a0001c0002t0011 a0001c0003t0012	a0001c0001t0003g0013 a0001c0001t0013g0007 a0001c0002t0007g0009 others(2): Show a0001c0001t0003g0013 a0001c0001t0013g0007 a0001c0002t0007g0009 a0001c0002t0011g0016 a0001c0003t0012g0019	5	24	0.2083	43	c.326 others(64): Show c.3262+18039_3262+18040insGCTGAGAGATTGTAAGCCTTGTGG AGAGAAGATTGTAAGCCTT		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79006172	G G	GTAAGCCT others(36): Show GTAAGCCTTGCTGAGAGATTGTAAGCCTTGTGGAGAGAAGATTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02922.hp2 others(3): Show HG01243.hp1 HG02257.hp1 HG02922.hp2 HG03225.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(2): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008	a0001c0003t0004 a0001c0004t0006 a0001c0006t0017 others(2): Show a0001c0003t0004 a0001c0004t0006 a0001c0006t0017 a0001c0007t0002 a0001c0008t0004	a0001c0003t0004g0015 a0001c0004t0006g0021 a0001c0006t0017g0001 others(3): Show a0001c0003t0004g0015 a0001c0004t0006g0021 a0001c0006t0017g0001 a0001c0007t0002g0010 a0001c0007t0002g0020 a0001c0008t0004g0014	6	24	0.2500	43	c.326 others(64): Show c.3262+18039_3262+18040insGCTGAGAGATTGTAAGCCTTGTGG AGAGAAGATTATAAGCCTT		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NTM_chr11_131365615_132341822	131874030	A A	AATATAAT others(36): Show AATATAATATAATATTATATATATATATAATAATATAATATAAT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02922.hp1 HG04228.hp2 HG01517.hp1 HG02922.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0007 a0002c0003t0006 a0001c0001t0003 a0001c0001t0007 a0002c0003t0006	a0001c0001t0003g0032 a0001c0001t0007g0007 a0002c0003t0006g0071 a0001c0001t0003g0032 a0001c0001t0007g0007 a0002c0003t0006g0071	3	86	0.0349	43	c.83- others(60): Show c.83-37529_83-37528insATATAATATTATATATATATATAATAAT ATAATATAATATATA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62755239	C C	CCATTCAC others(36): Show CCATTCACTCCTCTACCTCTCCCTCCATCCATCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02572.hp1 HG02698.hp2 others(10): Show HG02148.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG03688.hp1 HG04115.hp1 HG04184.hp2 NA18906.hp2 NA19009.hp1 NA19009.hp2 NA19079.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0042 others(1): Show a0001c0002t0001 a0001c0002t0007 a0001c0002t0042 a0001c0002t0043	a0001c0002t0001g0085 a0001c0002t0007g0035 a0001c0002t0007g0068 others(10): Show a0001c0002t0001g0085 a0001c0002t0007g0035 a0001c0002t0007g0068 a0001c0002t0007g0076 a0001c0002t0007g0078 a0001c0002t0007g0131 a0001c0002t0007g0184 a0001c0002t0007g0186 a0001c0002t0007g0187 a0001c0002t0007g0189 a0001c0002t0007g0190 a0001c0002t0042g0089 a0001c0002t0043g0022	13	316	0.0411	43	c.916 others(58): Show c.916+355_916+397dupATTCACTCCTCTACCTCTCCCTCCATCCAT CCCTCTCTCCCTC		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62755734	C C	CTCCCTCC others(36): Show CTCCCTCCATCCCTCCCTTCATCCATCCTCCCTCCCTCCATCCA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	316	0.0032	43	c.916 others(58): Show c.916+855_916+856insATCCCTCCCTTCATCCATCCTCCCTCCCTC CATCCATCCCTCC		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(36): Show ATATTTTATGTATATTTTATGTATATTTTATGTATATAAAATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18956.hp1 HG03704.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0067 a0001c0001t0002g0086 a0001c0001t0001g0067 a0001c0001t0002g0086	2	420	0.0048	43	c.360 others(58): Show c.360+687_360+688insTATTTTATGTATATTTTATGTATATTTTAT GTATATAAAATAT		NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3						chr12	TogoVar
NUB1_chr7_151336812_151383449	151359507	C C	CGTGGCTC others(36): Show CGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGCG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02717.hp2 others(2): Show HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02818.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0131 a0001c0001t0007g0144 others(2): Show a0001c0001t0007g0106 a0001c0001t0007g0131 a0001c0001t0007g0144 a0001c0001t0007g0182 a0001c0001t0007g0185	5	418	0.0120	43	c.694 others(58): Show c.694-632_694-590dupTGGCTCACGCCTGTAATCCCAGCATTTTGG GAGGCCAAGGCGG		NUB1	ENSG00000013374.17	transcript	ENST00000568733.6	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
NUDT17_chr1_145840630_145853954	145842809	A A	AGATAGAT others(36): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03486.hp1 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0003g0005 a0001c0001t0001g0005 a0001c0001t0003g0005	2	406	0.0049	43	c.-28 others(54): Show c.-2832_-2831insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGATAGAT		NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding					2820		chr1	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0253 a0001c0002t0055g0253	1	414	0.0024	43	c.99+ others(58): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(36): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG04228.hp2 NA18953.hp2 others(1): Show HG01433.hp1 HG04228.hp2 NA18953.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0283 a0001c0001t0002g0288 others(1): Show a0001c0001t0002g0190 a0001c0001t0002g0283 a0001c0001t0002g0288 a0001c0001t0002g0308	4	338	0.0118	43	c.38 others(54): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTCT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding					2907		chr11	TogoVar
NUP210L_chr1_153987690_154160073	154140666	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	290	0.0035	43	c.567 others(58): Show c.567-715_567-714insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		NUP210L	ENSG00000143552.10	transcript	ENST00000368559.8	protein_coding	4/39						chr1	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(36): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	234	0.0043	43	c.590 others(60): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0072 a0001c0001t0074g0072	1	368	0.0027	43	c.21 others(54): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAA AGAAAGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(36): Show CCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0230 a0001c0001t0230	a0001c0001t0230g0244 a0001c0001t0230g0244	1	368	0.0027	43	c.21 others(54): Show c.2111_*2112insAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAA GGAAGGAAG		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2447		chr16	TogoVar
NWD1_chr19_16714847_16822953	16761358	T T	TTCTTTCT others(36): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03471.hp2 HG02965.hp2 HG03471.hp2	a0004 a0006 a0004 a0006	a0004c0009 a0006c0014 a0004c0009 a0006c0014	a0004c0009t0009 a0006c0014t0008 a0004c0009t0009 a0006c0014t0008	a0004c0009t0009g0047 a0006c0014t0008g0253 a0004c0009t0009g0047 a0006c0014t0008g0253	2	300	0.0067	43	c.197 others(60): Show c.1974-611_1974-610insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCCTCTTTCTTTC		NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
NXF2B_chrX_102355395_102445008	102412530	A A	AGAAGAAG others(36): Show AGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	54	0.0185	43	c.-54 others(62): Show c.-54+26022_-54+26023insCTCTTCCTCTTCCTCTTCTTCCTTCT TCTTCTTCTTCTTCTTC		NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22						chrX	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(36): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01168.hp2 HG01070.hp1 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0062 a0001c0001t0001g0065	2	408	0.0049	43	c.25 others(54): Show c.2531_*2532insAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATA		NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding					2309		chr19	TogoVar
NXN_chr17_794310_984776	795597	T T	TTAGCCCC others(36): Show TTAGCCCCACTTTTGCCATTCTACCACGCACAGCCCTCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	242	0.0041	43	c.53 others(54): Show c.5351_*5352insGTGTGTGAGGGCTGTGCGTGGTAGAATGGCAAAA GTGGGGCTA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding					3712		chr17	TogoVar

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